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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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