LRP6 c.4157T>G ;(p.V1386G)

Variant ID: 12-12279780-A-C

NM_002336.2(LRP6):c.4157T>G;(p.V1386G)

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: LRP6: 4157T>G
PubMed Link: 24203697
Variant Present in the following documents:
  • Main text
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