Bibliome.ai browser hg19
Search
About
Stats
FAQ
GC c.1378dup ;(p.L460Pfs*4)
Variant ID: 4-72618251-A-AG
NM_000583.3(
GC
):c.1378dup;(p.L460Pfs*4)
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:
Haplotype-resolved de novo assembly of the Vero cell line genome.
Npj Vaccines
Sène, Marie-Angélique MA; Kiesslich, Sascha S; Djambazian, Haig H; Ragoussis, Jiannis J; Xia, Yu Y; Kamen, Amine A AA
Publication Date: 2021-08-20
Variant appearance in text: GC: 1378dupC
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
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: 1378dupC
PubMed Link:
33208168
Variant Present in the following documents:
13023_2020_1608_MOESM4_ESM.xlsx, sheet 2
View BVdb publication page