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GAA c.2228A>C ;(p.Q743P)
Variant ID: 17-78090805-A-C
NM_000152.3(
GAA
):c.2228A>C;(p.Q743P)
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:
Ultrasonography of abdominal muscles: Differential diagnosis of late-onset Pompe disease and myotonic dystrophy type 1.
Frontiers In Neurology
Hsieh, Pei-Chen PC; Chang, Chun-Wei CW; Ro, Long-Sun LS; Huang, Chin-Chang CC; Chi, Jia-En JE; Kuo, Hung-Chou HC
Publication Date: 2022
Variant appearance in text: GAA: 2228A>C
PubMed Link:
36147041
Variant Present in the following documents:
Main text
fneur-13-944464.pdf
View BVdb publication page
Hearing characteristics of infantile-onset Pompe disease after early enzyme-replacement therapy.
Orphanet Journal Of Rare Diseases
Hsueh, Chien-Yu CY; Huang, Chii-Yuan CY; Yang, Chia-Feng CF; Chang, Chia-Chen CC; Lin, Wei-Sheng WS; Cheng, Hsiu-Lien HL; Wu, Shang-Liang SL; Cheng, Yen-Fu YF; Niu, Dau-Ming DM
Publication Date: 2021-08-05
Variant appearance in text: GAA: 2228A>C; Q743P
PubMed Link:
34353347
Variant Present in the following documents:
Main text
13023_2021_Article_1817.pdf
View BVdb publication page