ABCA4 c.3329-23_3364del

Variant ID: 1-94506923-TCGTCCATGTGGTGAGTGGACATGATGATGGTTCTGCCTGCAAGGTAGGGGCCAGGGCAA-T

NM_000350.2(ABCA4):c.3329-23_3364del

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: STGD1: 3033_3364del
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page