ABCA4 c.1100del ;(p.T367Nfs*7)

Variant ID: 1-94545017-TG-T

NM_000350.2(ABCA4):c.1100del;(p.T367Nfs*7)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Accurate detection of clinically relevant uniparental disomy from exome sequencing data.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Yauy, Kevin K; de Leeuw, Nicole N; Yntema, Helger G HG; Pfundt, Rolph R; Gilissen, Christian C
Publication Date: 2020-04

Variant appearance in text: ABCA4: 1100del; Thr367fs
PubMed Link: 31767986
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_704.pdf
View BVdb publication page