Publications:

Expanding the Mutation Spectrum in ABCA4: Sixty Novel Disease Causing Variants and Their Associated Phenotype in a Large French Stargardt Cohort.

International Journal Of Molecular Sciences

Nassisi, Marco M; Mohand-Saïd, Saddek S; Dhaenens, Claire-Marie CM; Boyard, Fiona F; Démontant, Vanessa V; Andrieu, Camille C; Antonio, Aline A; Condroyer, Christel C; Foussard, Marine M; Méjécase, Cécile C; Eandi, Chiara Maria CM; Sahel, José-Alain JA; Zeitz, Christina C; Audo, Isabelle I

Publication Date: 2018-07-27

Variant appearance in text: ABCA4: 4696C>T

PubMed Link: 30060493

Variant Present in the following documents:

• Main text
• ijms-19-02196.pdf

View BVdb publication page

Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.

Cold Spring Harbor Molecular Case Studies

Wu, Ren-Chin RC; Veras, Ema E; Lin, Jeffrey J; Gerry, Emily E; Bahadirli-Talbott, Asli A; Baras, Alexander A; Ayhan, Ayse A; Shih, Ie-Ming IM; Wang, Tian-Li TL

Publication Date: 2017-11

Variant appearance in text: ABCA4: 4696C>T; L1566F; rs377398404

PubMed Link: 29162652

Variant Present in the following documents:

• supp_mcs.a001693_Supplemental_Table_2.xlsx, sheet 1

View BVdb publication page