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LRP6 c.1066T>C ;(p.L356=)
Variant ID: 12-12334284-A-G
NM_002336.2(
LRP6
):c.1066T>C;(p.L356=)
This variant was identified in 2 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Novel Candidate Genes for Non-Syndromic Tooth Agenesis Identified Using Targeted Next-Generation Sequencing.
Journal Of Clinical Medicine
Biedziak, Barbara B; Firlej, Ewa E; Dąbrowska, Justyna J; Bogdanowicz, Agnieszka A; Zadurska, Małgorzata M; Mostowska, Adrianna A
Publication Date: 2022-10-15
Variant appearance in text: LRP6: Leu356Leu
PubMed Link:
36294409
Variant Present in the following documents:
jcm-11-06089.pdf
View BVdb publication page
Functional analysis LRP6 novel mutations in patients with coronary artery disease.
Plos One
Xu, Yujun Y; Gong, Wei W; Peng, Jia J; Wang, Haoran H; Huang, Jin J; Ding, Hu H; Wang, Dao Wen DW
Publication Date: 2014
Variant appearance in text: LRP6: 1066T>C
PubMed Link:
24427284
Variant Present in the following documents:
Main text
View BVdb publication page