LDLR c.1390_1391delinsAA ;(p.S464N)

Variant ID: 19-11224242-TC-AA

NM_000527.4(LDLR):c.1390_1391delinsAA;(p.S464N)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Novel mutations in Lrp6 orthologs in mouse and human neural tube defects affect a highly dosage-sensitive Wnt non-canonical planar cell polarity pathway.

Human Molecular Genetics
Allache, Redouane R; Lachance, Stéphanie S; Guyot, Marie Claude MC; De Marco, Patrizia P; Merello, Elisa E; Justice, Monica J MJ; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2014-04-01

Variant appearance in text: LDLR: Ser464Asn
PubMed Link: 24203697
Variant Present in the following documents:
  • Main text
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