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GAA c.2T>C ;(p.M1?)
Variant ID: 17-78078387-T-C
NM_000152.3(
GAA
):c.2T>C;(p.M1?)
This variant was identified in 4 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: GAA: 2T>C
PubMed Link:
34417462
Variant Present in the following documents:
41541_2021_358_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page
Two Approaches for a Genetic Analysis of Pompe Disease: A Literature Review of Patients with Pompe Disease and Analysis Based on Genomic Data from the General Population.
Children (Basel, Switzerland)
Park, Kyung-Sun KS
Publication Date: 2021-07-16
Variant appearance in text: GAA: 2T>C
PubMed Link:
34356580
Variant Present in the following documents:
Main text
children-08-00601.pdf
View BVdb publication page
Genome scale analysis of pathogenic variants targetable for single base editing.
Bmc Medical Genomics
Lavrov, Alexander V AV; Varenikov, Georgi G GG; Skoblov, Mikhail Yu MY
Publication Date: 2020-09-18
Variant appearance in text: GAA: 2T>C
PubMed Link:
32948190
Variant Present in the following documents:
12920_2020_735_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page
A molecular analysis of the GAA gene and clinical spectrum in 38 patients with Pompe disease in Japan.
Molecular Genetics And Metabolism Reports
Fukuhara, Yasuyuki Y; Fuji, Naoko N; Yamazaki, Narutoshi N; Hirakiyama, Asami A; Kamioka, Tetsuharu T; Seo, Joo-Hyun JH; Mashima, Ryuichi R; Kosuga, Motomichi M; Okuyama, Torayuki T
Publication Date: 2018-03
Variant appearance in text: GAA: 2T>C; M1T
PubMed Link:
29124014
Variant Present in the following documents:
main.pdf
View BVdb publication page