All individuals with variants in gene TCTN1

14 entries on 1 page. Showing entries 1 - 14.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00028922 1-34 Pat11 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00028950 1-48 Pat20 PubMed: Kroes 2016 - - - - Europe-N - 0 - - JBTS1 - 1 1 Sanne Savelberg
00058534 - - - F yes China HAN - 0 - - JBTS - 1 1 Jiang Wenting
00058535 - - - M yes China Han - 0 - - JBTS - 1 1 Jiang Wenting
00290597 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 1 Mohammed Faruq
00290598 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 9 Mohammed Faruq
00290599 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 228 Mohammed Faruq
00304329 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 6 Mohammed Faruq
00363568 FamHSJ-JBTS-clin2PatHSJ-JBTS-2 PubMed: Srour 2015 - M - Canada French-Canadian - 0 - - JBTS see paper; ... 2 1 LOVD
00372316 UW270-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - 0 - - JBTS see paper; ... 1 1 LOVD
00372385 ND13333 PubMed: Bachmann-Gagescu 2015 control - - - - - 0 - - Healthy/Control - 2 1 LOVD
00373385 1-56 PubMed: Kroes 2016 - - - - Europe-N - 0 - - retinal disease see paper; ... 1 1 LOVD
00379590 - PubMed: alazami-2012 - - - Saudi Arabia - - 0 - - retinal disease - 1 2 LOVD
00379591 - PubMed: alazami-2012 - M - Saudi Arabia - - 0 - - retinal disease - 1 1 LOVD
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