All individuals with variants in gene ATP7B

106 entries on 2 pages. Showing entries 1 - 100.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000001 - PubMed: Bell 2011 - - - - - - - - - ?, JBS - 1 1 LOVD-team, but with Curator vacancy
00000002 - PubMed: Bell 2011 - - - - - - - - - ? in vitro assay 1 1 LOVD-team, but with Curator vacancy
00000005 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000006 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000007 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000008 - PubMed: Bell 2011 - - - - - - - - - - - 2 1 LOVD-team, but with Curator vacancy
00000009 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000010 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000011 - PubMed: Bell 2011 - M - - - - 0 - - autism, CF - 1 1 LOVD-team, but with Curator vacancy
00000012 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000013 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000014 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000016 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000017 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000018 - PubMed: Bell 2011 - - - - - - 0 - - autism - 1 1 LOVD-team, but with Curator vacancy
00000020 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000022 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000023 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000024 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000025 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000026 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000027 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000028 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000030 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000031 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000032 - PubMed: Bell 2011 - - - - - - 0 - - GSD cardiomyopathy (HP:0001638); respiratory problems (HP:0002093) 1 1 LOVD-team, but with Curator vacancy
00000033 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000034 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000035 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000036 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000037 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000038 - PubMed: Bell 2011 - - - - - - 0 - - epilepsy - 1 1 LOVD-team, but with Curator vacancy
00000039 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000041 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000042 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000043 - PubMed: Bell 2011 - - - - - - 0 - - - - 2 1 LOVD-team, but with Curator vacancy
00000044 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000045 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000046 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000047 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000048 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000049 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000050 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000051 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000053 - PubMed: Bell 2011 JPT/HAN‐HapMap sample F - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000054 - PubMed: Bell 2011 - - - - - - - - - ABL see paper; … 1 1 LOVD-team, but with Curator vacancy
00000055 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000056 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000057 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000058 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000059 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000060 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000061 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000062 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000063 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000064 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000065 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000066 - PubMed: Bell 2011 - - - - - - 0 - - - - 1 1 LOVD-team, but with Curator vacancy
00000067 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - in vitro assay 1 1 LOVD-team, but with Curator vacancy
00000069 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000070 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000071 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000072 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000073 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000074 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000075 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000076 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000077 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000078 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000080 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000081 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000082 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000083 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000085 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000086 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000087 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000088 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000089 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000093 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000094 - PubMed: Bell 2011 - - - - - - - - - ? - 1 1 LOVD-team, but with Curator vacancy
00000095 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000096 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000098 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000099 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000100 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00000101 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00019897 - PubMed: Gilissen 2014 - ? ? ? (unknown) - - 0 - - ID - 1 1 Marianne Vos (LOVD-team)
00073146 - ATX23 - F - France - - 0 - - SCAR - 2 1 Claire Guissart
00207500 12336-Pat1 - 2 affecteds F yes - - >10y 0 - - BVVLS-1 visual impairment (HP:0000505) hearing impairment (HP:0000365) no abnormality of the liver (-HP:0001392) 1 2 Gunnar Schmidt
00207521 12336-Pat2 - - M yes - - - 0 - - BVVLS-1 Visual impairment (HP:0000505) Hearing impairment (HP:0000365) 1 1 Gunnar Schmidt
00208510 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208511 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208512 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208513 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208514 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208515 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208516 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
00208517 - - - - - - - - 0 - - Wilson - 1 1 Donghu Zhou
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