VANGL1 c.458T>C ;(p.F153S)

Variant ID: 1-116206535-T-C

NM_138959.2(VANGL1):c.458T>C;(p.F153S)

This variant was identified in 3 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: VANGL1: Phe153Ser
PubMed Link: 31590237
Variant Present in the following documents:
  • Main text
  • cells-08-01198.pdf
View BVdb publication page



Novel VANGL1 Gene Mutations in 144 Slovakian, Romanian and German Patients with Neural Tube Defects.

Molecular Syndromology
Bartsch, O O; Kirmes, I I; Thiede, A A; Lechno, S S; Gocan, H H; Florian, I S IS; Haaf, T T; Zechner, U U; Sabova, L L; Horn, F F
Publication Date: 2012-08

Variant appearance in text: VANGL1: Phe153Ser
PubMed Link: 23326252
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel mutations in VANGL1 in neural tube defects.

Human Mutation
Kibar, Zoha Z; Bosoi, Ciprian M CM; Kooistra, Megan M; Salem, Sandra S; Finnell, Richard H RH; De Marco, Patrizia P; Merello, Elisa E; Bassuk, Alexander G AG; Capra, Valeria V; Gros, Philippe P
Publication Date: 2009-07

Variant appearance in text: VANGL1: 458T>C; Phe153Ser
PubMed Link: 19319979
Variant Present in the following documents:
  • Main text
View BVdb publication page