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SI c.1313G>A ;(p.G438E)
Variant ID: 3-164776836-C-T
NM_001041.3(
SI
):c.1313G>A;(p.G438E)
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:
A novel single base pair duplication in WDR62 causes primary microcephaly.
Bmc Medical Genetics
Rupp, Verena V; Rauf, Sobiah S; Naveed, Ishrat I; Windpassinger, Christian C; Mir, Asif A
Publication Date: 2014-10-11
Variant appearance in text: SI: 1313G>A
PubMed Link:
25303973
Variant Present in the following documents:
Main text
12881_2014_Article_107.pdf
View BVdb publication page