LDLR c.95T>C ;(p.F32S)

Variant ID: 19-11210926-T-C

NM_000527.4(LDLR):c.95T>C;(p.F32S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Low prevalence of mutations in known loci for autosomal dominant hypercholesterolemia in a multiethnic patient cohort.

Circulation. Cardiovascular Genetics
Ahmad, Zahid Z; Adams-Huet, Beverley B; Chen, Chiyuan C; Garg, Abhimanyu A
Publication Date: 2012-12

Variant appearance in text: LDLR: 95T>C
PubMed Link: 23064986
Variant Present in the following documents:
  • Main text
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