All individuals with variants in gene BFSP2

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00065039 - PubMed: Gillespie 2014, Journal: Gillespie 2014 has affected father, paternal cousin M no - - - 0 - - CCTRCT Spoke-like, nuclear component, subcapsular, lamellar cataract 1 3 Johan den Dunnen
00335999 - PubMed: Sergouniotis 2016 analysis 181 cases - - United Kingdom (Great Britain) - - 0 - - CTRCT - 1 1 LOVD
00380459 WHP54 PubMed: Sun 2018 - F - China - - 0 - - ? - 1 1 LOVD
00385542 18009736 PubMed: Lenassi 2020 retrospective analysis M - (United Kingdom (Great Britain)) - - 0 - - retinal disease - 1 1 LOVD
Legend   How to query