ABCA4 c.3813G>A ;(p.E1271=)

Variant ID: 1-94502701-C-T

NM_000350.2(ABCA4):c.3813G>A;(p.E1271=)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

Investigative Ophthalmology & Visual Science
Schulz, Heidi L HL; Grassmann, Felix F; Kellner, Ulrich U; Spital, Georg G; Rüther, Klaus K; Jägle, Herbert H; Hufendiek, Karsten K; Rating, Philipp P; Huchzermeyer, Cord C; Baier, Maria J MJ; Weber, Bernhard H F BH; Stöhr, Heidi H
Publication Date: 2017-01-01

Variant appearance in text: STGD: 3813G>A
PubMed Link: 28118664
Variant Present in the following documents:
  • Main text
  • iovs-57-15-69_s01.pdf
  • iovs-57-15-69_s05.pdf
  • iovs-57-15-69_s04.pdf
View BVdb publication page