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PC c.125T>C ;(p.V42A)
Variant ID: 11-66639506-A-G
NM_001040716.1(
PC
):c.125T>C;(p.V42A)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Phenotypic and Genetic Spectrum of Autosomal Recessive Bestrophinopathy and Best Vitelliform Macular Dystrophy.
Investigative Ophthalmology & Visual Science
Pfister, Tyler A TA; Zein, Wadih M WM; Cukras, Catherine A CA; Sen, Hatice N HN; Maldonado, Ramiro S RS; Huryn, Laryssa A LA; Hufnagel, Robert B RB
Publication Date: 2021-05-03
Variant appearance in text: PC: 125T>C
PubMed Link:
34015078
Variant Present in the following documents:
Main text
iovs-62-6-22.pdf
View BVdb publication page
A kinetic core model of the glucose-stimulated insulin secretion network of pancreatic beta cells.
Mammalian Genome : Official Journal Of The International Mammalian Genome Society
Jiang, Nan N; Cox, Roger D RD; Hancock, John M JM
Publication Date: 2007-07
Variant appearance in text: PC: v42a
PubMed Link:
17514510
Variant Present in the following documents:
335_2007_9011_MOESM1_ESM.pdf
View BVdb publication page