Bibliome.ai browser hg19
Search
About
Stats
FAQ
TG c.1315_1316delinsGC ;(p.L439A)
Variant ID: 8-133898932-CT-GC
NM_003235.4(
TG
):c.1315_1316delinsGC;(p.L439A)
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:
Mutations in PRP43 that uncouple RNA-dependent NTPase activity and pre-mRNA splicing function.
Biochemistry
Tanaka, Naoko N; Schwer, Beate B
Publication Date: 2006-05-23
Variant appearance in text: TG: L439A
PubMed Link:
16700561
Variant Present in the following documents:
Main text
View BVdb publication page