LRP6 c.4445C>T ;(p.P1482L)

Variant ID: 12-12278234-G-A

NM_002336.2(LRP6):c.4445C>T;(p.P1482L)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Update on the Role of the Non-Canonical Wnt/Planar Cell Polarity Pathway in Neural Tube Defects.

Cells
Wang, Mingqin M; Marco, Patrizia de P; Capra, Valeria V; Kibar, Zoha Z
Publication Date: 2019-10-04

Variant appearance in text: LRP6: Pro1482Leu
PubMed Link: 31590237
Variant Present in the following documents:
  • Main text
  • cells-08-01198.pdf
View BVdb publication page



Rare LRP6 variants identified in spina bifida patients.

Human Mutation
Lei, Yunping Y; Fathe, Kristin K; McCartney, Danielle D; Zhu, Huiping H; Yang, Wei W; Ross, M Elizabeth ME; Shaw, Gary M GM; Finnell, Richard H RH
Publication Date: 2015-03

Variant appearance in text: LRP6: 4445C>T; P1482L
PubMed Link: 25546815
Variant Present in the following documents:
  • Main text
View BVdb publication page