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.




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