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GAA c.2132_2133delinsGG ;(p.T711R)
Variant ID: 17-78087108-CA-GG
NM_000152.3(
GAA
):c.2132_2133delinsGG;(p.T711R)
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:
Current status of newborn screening for Pompe disease in Japan.
Orphanet Journal Of Rare Diseases
Sawada, Takaaki T; Kido, Jun J; Sugawara, Keishin K; Momosaki, Ken K; Yoshida, Shinichiro S; Kojima-Ishii, Kanako K; Inoue, Takahito T; Matsumoto, Shirou S; Endo, Fumio F; Ohga, Shouichi S; Hirose, Shinichi S; Nakamura, Kimitoshi K
Publication Date: 2021-12-18
Variant appearance in text: GAA: T711R; rs1555601773
PubMed Link:
34922579
Variant Present in the following documents:
Main text
13023_2021_Article_2146.pdf
View BVdb publication page