LDLR c.112A>T ;(p.K38*)

Variant ID: 19-11210943-A-T

NM_000527.4(LDLR):c.112A>T;(p.K38*)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Molecular Characterization of Familial Hypercholesterolemia in a North American Cohort.

Journal Of The Endocrine Society
Garg, Abhimanyu A; Fazio, Sergio S; Duell, P Barton PB; Baass, Alexis A; Udata, Chandrasekhar C; Joh, Tenshang T; Riel, Tom T; Sirota, Marina M; Dettling, Danielle D; Liang, Hong H; Garzone, Pamela D PD; Gumbiner, Barry B; Wan, Hong H
Publication Date: 2020-01-01

Variant appearance in text: LDLR: 112A>T; K38*
PubMed Link: 31993549
Variant Present in the following documents:
  • Main text
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