Publications:

Mutation Screening of Six Exons of ABCA4 in Iranian Stargardt Disease Patients.

Journal Of Ophthalmic & Vision Research

Darbari, Ensieh E; Ahmadieh, Hamid H; Daftarian, Narsis N; Rezaei Kanavi, Mozhgan M; Suri, Fatemeh F; Sabbaghi, Hamideh H; Elahi, Elahe E

Publication Date: 2022

Variant appearance in text: ABCA4: 1356+1G>T

PubMed Link: 35194496

Variant Present in the following documents:

• jovr-17-51.pdf

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A novel statistical method for interpreting the pathogenicity of rare variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Wang, Jun J; Liu, Hehe H; Bertrand, Renae Elaine RE; Sarrion-Perdigones, Alejandro A; Gonzalez, Yezabel Y; Venken, Koen J T KJT; Chen, Rui R

Publication Date: 2021-01

Variant appearance in text: ABCA4: 1356+1G>T

PubMed Link: 32884132

Variant Present in the following documents:

• NIHMS1630822-supplement-Supplementary_Tables.xlsx, sheet 6

View BVdb publication page