LDLR c.394_396delinsTAT ;(p.R132Y)

Variant ID: 19-11215976-CGG-TAT

NM_000527.4(LDLR):c.394_396delinsTAT;(p.R132Y)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational analysis of sclerostin shows importance of the flexible loop and the cystine-knot for Wnt-signaling inhibition.

Plos One
Boschert, Verena V; van Dinther, Maarten M; Weidauer, Stella S; van Pee, Katharina K; Muth, Eva-Maria EM; Ten Dijke, Peter P; Mueller, Thomas D TD
Publication Date: 2013

Variant appearance in text: LDLR: R132Y
PubMed Link: 24312339
Variant Present in the following documents:
  • Main text
  • pone.0081710.pdf
View BVdb publication page