ABCA4 c.4539G>A ;(p.Q1513=)

Variant ID: 1-94495001-C-T

NM_000350.2(ABCA4):c.4539G>A;(p.Q1513=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical spectrum, genetic complexity and therapeutic approaches for retinal disease caused by ABCA4 mutations.

Progress In Retinal And Eye Research
Cremers, Frans P M FPM; Lee, Winston W; Collin, Rob W J RWJ; Allikmets, Rando R
Publication Date: 2020-11

Variant appearance in text: ABCA4: 4539G>A
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page