Bibliome.ai browser hg19
Search
About
Stats
FAQ
LDLR c.344_345delinsAA ;(p.R115Q)
Variant ID: 19-11215926-GC-AA
NM_000527.4(
LDLR
):c.344_345delinsAA;(p.R115Q)
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: R115Q
PubMed Link:
24312339
Variant Present in the following documents:
Main text
View BVdb publication page