Publications:

Sub-cellular level resolution of common genetic variation in the photoreceptor layer identifies continuum between rare disease and common variation.

Plos Genetics

Currant, Hannah H; Fitzgerald, Tomas W TW; Patel, Praveen J PJ; Khawaja, Anthony P AP; , ; Webster, Andrew R AR; Mahroo, Omar A OA; Birney, Ewan E

Publication Date: 2023-02-27

Variant appearance in text: rs60401382

PubMed Link: 36848389

Variant Present in the following documents:

• Main text
• pgen.1010587.pdf

View BVdb publication page

Specific correlation between the major chromosome 10q26 haplotype conferring risk for age-related macular degeneration and the expression of HTRA1.

Molecular Vision

Liao, Sha-Mei SM; Zheng, Wei W; Zhu, Jiang J; Lewis, Casey A CA; Delgado, Omar O; Crowley, Maura A MA; Buchanan, Natasha M NM; Jaffee, Bruce D BD; Dryja, Thaddeus P TP

Publication Date: 2017

Variant appearance in text: rs60401382

PubMed Link: 28659708

Variant Present in the following documents:

• Main text
• mv-v23-318.pdf

View BVdb publication page