TG c.1510_1511delinsGC ;(p.L504A)

Variant ID: 8-133899127-CT-GC

NM_003235.4(TG):c.1510_1511delinsGC;(p.L504A)

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: L504A
PubMed Link: 16700561
Variant Present in the following documents:
  • Main text
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