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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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