ABCA4 c.5602_5603delinsCT ;(p.N1868L)

Variant ID: 1-94476467-TT-AG

NM_000350.2(ABCA4):c.5602_5603delinsCT;(p.N1868L)

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: Asn1868Leu
PubMed Link: 32278709
Variant Present in the following documents:
  • Main text
  • nihms-1627942.pdf
View BVdb publication page