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LDLR c.1602T>G ;(p.T534=)
Variant ID: 19-11226785-T-G
NM_000527.4(
LDLR
):c.1602T>G;(p.T534=)
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:
Six novel missense mutations in the LDL receptor-related protein 5 (LRP5) gene in different conditions with an increased bone density.
American Journal Of Human Genetics
Van Wesenbeeck, Liesbeth L; Cleiren, Erna E; Gram, Jeppe J; Beals, Rodney K RK; BĂ©nichou, Olivier O; Scopelliti, Domenico D; Key, Lyndon L; Renton, Tara T; Bartels, Cindy C; Gong, Yaoqin Y; Warman, Matthew L ML; De Vernejoul, Marie-Christine MC; Bollerslev, Jens J; Van Hul, Wim W
Publication Date: 2003-03
Variant appearance in text: LDLR: T534T
PubMed Link:
12579474
Variant Present in the following documents:
Main text
View BVdb publication page