All individuals with variants in gene ARV1

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     

ID_report     

Reference     

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Gender     

Consanguinity     

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Population     

Age at death     

VIP     

Data_av     

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Disease     

Phenotype details     

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Panel size     

Owner     
00225701 25558065-Fam08DGRC00077 PubMed: Alazami 2015, Journal: Alazami 2015 4-generation family, 3 affected (F, 2M), unaffected heterozygous carrier parents/relatives F;M yes Saudi Arabia - - - - - ? see paper; …, neurodegenerative disease 1 3 Johan den Dunnen
00324345 - - - F - - - - - - - ? Poor eye contact (HP:0000817); Muscular hypotonia (HP:0001252); Opisthotonus (HP:0002179); Uncontrolled eye movements (HP:0007738) 1 1 IMGAG
00391788 158P - - F no Spain - - - - - ID - 1 1 Alejandro Brea-Fernández
00431872 SIDS040 - - F - Switzerland Europe 00y08m - - - SIDS SIDS 1 1 Cordula Haas
00455849 Pat89 PubMed: Salinas 2020 patient M - - - - - - - ? - 2 1 Johan den Dunnen
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