ABCA4 c.3264C>G ;(p.P1088=)

Variant ID: 1-94508381-G-C

NM_000350.2(ABCA4):c.3264C>G;(p.P1088=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

American Journal Of Human Genetics
Rivera, A A; White, K K; Stöhr, H H; Steiner, K K; Hemmrich, N N; Grimm, T T; Jurklies, B B; Lorenz, B B; Scholl, H P HP; Apfelstedt-Sylla, E E; Weber, B H BH
Publication Date: 2000-10

Variant appearance in text: STGD: P1088P
PubMed Link: 10958763
Variant Present in the following documents:
  • Main text
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