LDLR c.1297_1298delinsAG ;(p.D433S)

Variant ID: 19-11224064-GA-AG

NM_000527.4(LDLR):c.1297_1298delinsAG;(p.D433S)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Rare nonconservative LRP6 mutations are associated with metabolic syndrome.

Human Mutation
Singh, Rajvir R; Smith, Emily E; Fathzadeh, Mohsen M; Liu, Wenzhong W; Go, Gwang-Woong GW; Subrahmanyan, Lakshman L; Faramarzi, Saeed S; McKenna, William W; Mani, Arya A
Publication Date: 2013-09

Variant appearance in text: LDLR: Asp433Ser
PubMed Link: 23703864
Variant Present in the following documents:
  • Main text
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