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GC c.857G>C ;(p.C286S)
Variant ID: 4-72622606-C-G
NM_000583.3(
GC
):c.857G>C;(p.C286S)
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:
Estimated prevalence of mucopolysaccharidoses from population-based exomes and genomes.
Orphanet Journal Of Rare Diseases
Borges, Pâmella P; Pasqualim, Gabriela G; Giugliani, Roberto R; Vairo, Filippo F; Matte, Ursula U
Publication Date: 2020-11-18
Variant appearance in text: GC: 857G>C
PubMed Link:
33208168
Variant Present in the following documents:
13023_2020_1608_MOESM4_ESM.xlsx, sheet 10
View BVdb publication page
A novel mechanism of regulating breast cancer cell migration via palmitoylation-dependent alterations in the lipid raft affiliation of CD44.
Breast Cancer Research : Bcr
Babina, Irina S IS; McSherry, Elaine A EA; Donatello, Simona S; Hill, Arnold D K AD; Hopkins, Ann M AM
Publication Date: 2014-02-10
Variant appearance in text: GC: C286S
PubMed Link:
24512624
Variant Present in the following documents:
Main text
bcr3614.pdf
View BVdb publication page