GAA c.1783C>T ;(p.P595S)

Variant ID: 17-78086405-C-T

NM_000152.3(GAA):c.1783C>T;(p.P595S)

This variant was identified in 5 publications

View GRCh38 version.




Publications:


Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease).

Animals : An Open Access Journal From Mdpi
Rakib, Tofazzal Md TM; Islam, Md Shafiqul MS; Tanaka, Shigeki S; Yabuki, Akira A; Pervin, Shahnaj S; Maki, Shinichiro S; Faruq, Abdullah Al AA; Tacharina, Martia Rani MR; Yamato, Osamu O
Publication Date: 2023-04-13

Variant appearance in text: GAA: 1783C>T
PubMed Link: 37106898
Variant Present in the following documents:
  • Main text
  • animals-13-01336.pdf
View BVdb publication page



Genomic landscape, immune characteristics and prognostic mutation signature of cervical cancer in China.

Bmc Medical Genomics
Liu, Jing J; Li, Zirong Z; Lu, Ting T; Pan, Junping J; Li, Li L; Song, Yanwen Y; Hu, Dan D; Zhuo, Yanhong Y; Chen, Ying Y; Xu, Qin Q
Publication Date: 2022-11-04

Variant appearance in text: GAA: 1783C>T
PubMed Link: 36333792
Variant Present in the following documents:
  • 12920_2022_1376_MOESM1_ESM.xlsx, sheet 1
View BVdb publication page



Preclinical Research in Glycogen Storage Diseases: A Comprehensive Review of Current Animal Models.

International Journal Of Molecular Sciences
Almodóvar-Payá, Aitana A; Villarreal-Salazar, Mónica M; de Luna, Noemí N; Nogales-Gadea, Gisela G; Real-Martínez, Alberto A; Andreu, Antoni L AL; Martín, Miguel Angel MA; Arenas, Joaquin J; Lucia, Alejandro A; Vissing, John J; Krag, Thomas T; Pinós, Tomàs T
Publication Date: 2020-12-17

Variant appearance in text: GAA: 1783C>T
PubMed Link: 33348688
Variant Present in the following documents:
  • Main text
  • ijms-21-09621.pdf
View BVdb publication page



Genetic disorders in beef cattle: a review.

Genes & Genomics
Ciepłoch, Aleksandra A; Rutkowska, Karolina K; Oprządek, Jolanta J; Poławska, Ewa E
Publication Date: 2017

Variant appearance in text: GAA: 1783C>T
PubMed Link: 28458779
Variant Present in the following documents:
  • Main text
View BVdb publication page



A highly recurrent RPS27 5'UTR mutation in melanoma.

Oncotarget
Dutton-Regester, Ken K; Gartner, Jared J JJ; Emmanuel, Rafi R; Qutob, Nouar N; Davies, Michael A MA; Gershenwald, Jeffrey E JE; Robinson, William W; Robinson, Steven S; Rosenberg, Steven A SA; Scolyer, Richard A RA; Mann, Graham J GJ; Thompson, John F JF; Hayward, Nicholas K NK; Samuels, Yardena Y
Publication Date: 2014-05-30

Variant appearance in text: GAA: 1783C>T
PubMed Link: 24913145
Variant Present in the following documents:
  • oncotarget-05-2912-s003.xlsx, sheet 1
View BVdb publication page