LRP6 c.4243G>T ;(p.V1415F)

Variant ID: 12-12279694-C-A

NM_002336.2(LRP6):c.4243G>T;(p.V1415F)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De Novo Mutation in Genes Regulating Neural Stem Cell Fate in Human Congenital Hydrocephalus.

Neuron
Furey, Charuta Gavankar CG; Choi, Jungmin J; Jin, Sheng Chih SC; Zeng, Xue X; Timberlake, Andrew T AT; Nelson-Williams, Carol C; Mansuri, M Shahid MS; Lu, Qiongshi Q; Duran, Daniel D; Panchagnula, Shreyas S; Allocco, August A; Karimy, Jason K JK; Khanna, Arjun A; Gaillard, Jonathan R JR; DeSpenza, Tyrone T; Antwi, Prince P; Loring, Erin E; Butler, William E WE; Smith, Edward R ER; Warf, Benjamin C BC; Strahle, Jennifer M JM; Limbrick, David D DD; Storm, Phillip B PB; Heuer, Gregory G; Jackson, Eric M EM; Iskandar, Bermans J BJ; Johnston, James M JM; Tikhonova, Irina I; Castaldi, Christopher C; López-Giráldez, Francesc F; Bjornson, Robert D RD; Knight, James R JR; Bilguvar, Kaya K; Mane, Shrikant S; Alper, Seth L SL; Haider, Shozeb S; Guclu, Bulent B; Bayri, Yasar Y; Sahin, Yener Y; Apuzzo, Michael L J MLJ; Duncan, Charles C CC; DiLuna, Michael L ML; Günel, Murat M; Lifton, Richard P RP; Kahle, Kristopher T KT
Publication Date: 2018-07-25

Variant appearance in text: LRP6: Val1415Phe
PubMed Link: 29983323
Variant Present in the following documents:
  • Main text
View BVdb publication page