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PC c.192A>C ;(p.V64=)
Variant ID: 11-66639287-T-G
NM_001040716.1(
PC
):c.192A>C;(p.V64=)
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:
Tophaceous gout in a female premenopausal patient with an unexpected diagnosis of glycogen storage disease type Ia: a case report and literature review.
Clinical Rheumatology
Zhang, Bingqing B; Zeng, Xuejun X
Publication Date: 2016-11
Variant appearance in text: PC: V64V
PubMed Link:
27139513
Variant Present in the following documents:
10067_2016_Article_3290.pdf
View BVdb publication page