ABCA4 c.3328+577_3328+635del

Variant ID: 1-94507682-AGAAAGAAAGAAAATAGCAATGAGGATTTCAGGATGACAAACCCTCAGAGAAAGGCACGG-A

NM_000350.2(ABCA4):c.3328+577_3328+635del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Bauwens, Miriam M; Garanto, Alejandro A; Sangermano, Riccardo R; Naessens, Sarah S; Weisschuh, Nicole N; De Zaeytijd, Julie J; Khan, Mubeen M; Sadler, Françoise F; Balikova, Irina I; Van Cauwenbergh, Caroline C; Rosseel, Toon T; Bauwens, Jim J; De Leeneer, Kim K; De Jaegere, Sarah S; Van Laethem, Thalia T; De Vries, Meindert M; Carss, Keren K; Arno, Gavin G; Fakin, Ana A; Webster, Andrew R AR; de Ravel de l'Argentière, Thomy J L TJL; Sznajer, Yves Y; Vuylsteke, Marnik M; Kohl, Susanne S; Wissinger, Bernd B; Cherry, Timothy T; Collin, Rob W J RWJ; Cremers, Frans P M FPM; Leroy, Bart P BP; De Baere, Elfride E
Publication Date: 2019-08

Variant appearance in text: STGD1: 2918+775_3328+640del
PubMed Link: 30670881
Variant Present in the following documents:
  • Main text
  • 41436_2018_Article_420.pdf
View BVdb publication page