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TTN c.33938dup ;(p.E11314Rfs*24)
Variant ID: 2-179542907-T-TG
NM_001267550.1(
TTN
):c.33938dup;(p.E11314Rfs*24)
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:
The clinical spectrum and genetic variability of limb-girdle muscular dystrophy in a cohort of Chinese patients.
Orphanet Journal Of Rare Diseases
Wang, Liang L; Zhang, Victor Wei VW; Li, Shaoyuan S; Li, Huan H; Sun, Yiming Y; Li, Jing J; Zhu, Yuling Y; He, Ruojie R; Lin, Jinfu J; Zhang, Cheng C
Publication Date: 2018-08-14
Variant appearance in text: TTN: 33938dupC; E11314Rfs*24
PubMed Link:
30107846
Variant Present in the following documents:
Main text
13023_2018_Article_859.pdf
View BVdb publication page