GAA c.2177C>G ;(p.P726R)

Variant ID: 17-78087153-C-G

NM_000152.3(GAA):c.2177C>G;(p.P726R)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 2177C>G; Pro726Arg
PubMed Link: 34356580
Variant Present in the following documents:
  • Main text
  • children-08-00601.pdf
View BVdb publication page



A De Novo Mutation in DYRK1A Causes Syndromic Intellectual Disability: A Chinese Case Report.

Frontiers In Genetics
Qiao, Fengchang F; Shao, Binbin B; Wang, Chen C; Wang, Yan Y; Zhou, Ran R; Liu, Gang G; Meng, Lulu L; Hu, Ping P; Xu, Zhengfeng Z
Publication Date: 2019

Variant appearance in text: GAA: 2177C>G
PubMed Link: 31803247
Variant Present in the following documents:
  • DataSheet_2.pdf
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: P726R
PubMed Link: 29124014
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page