GAA c.1437+1G>A

Variant ID: 17-78083855-G-A

NM_000152.3(GAA):c.1437+1G>A

This variant was identified in 10 publications

View GRCh38 version.




Publications:


Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Carrier frequency and predicted genetic prevalence of Pompe disease based on a general population database.

Molecular Genetics And Metabolism Reports
Park, Kyung Sun KS
Publication Date: 2021-06

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 33717985
Variant Present in the following documents:
  • mmc1.xlsx, sheet 1
View BVdb publication page



Newborn Screening for Pompe Disease.

International Journal Of Neonatal Screening
Sawada, Takaaki T; Kido, Jun J; Nakamura, Kimitoshi K
Publication Date: 2020-06

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 33073027
Variant Present in the following documents:
  • Main text
View BVdb publication page



The First Year Experience of Newborn Screening for Pompe Disease in California.

International Journal Of Neonatal Screening
Tang, Hao H; Feuchtbaum, Lisa L; Sciortino, Stanley S; Matteson, Jamie J; Mathur, Deepika D; Bishop, Tracey T; Olney, Richard S RS
Publication Date: 2020-03

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 33073007
Variant Present in the following documents:
  • Main text
View BVdb publication page



Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants.

International Journal Of Neonatal Screening
Burton, Barbara K BK; Charrow, Joel J; Hoganson, George E GE; Fleischer, Julie J; Grange, Dorothy K DK; Braddock, Stephen R SR; Hitchins, Lauren L; Hickey, Rachel R; Christensen, Katherine M KM; Groepper, Daniel D; Shryock, Heather H; Smith, Pamela P; Shao, Rong R; Basheeruddin, Khaja K
Publication Date: 2020-03

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 33073003
Variant Present in the following documents:
  • Main text
  • IJNS-06-00004.pdf
View BVdb publication page



GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation
Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,
Publication Date: 2019-11

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 31342611
Variant Present in the following documents:
  • Main text
  • HUMU-40-2146-s001.pdf
  • HUMU-40-2146.pdf
View BVdb publication page



Newborn screening for lysosomal storage disorders in hungary.

Jimd Reports
Wittmann, Judit J; Karg, Eszter E; Turi, Sàndor S; Legnini, Elisa E; Wittmann, Gyula G; Giese, Anne-Katrin AK; Lukas, Jan J; Gölnitz, Uta U; Klingenhäger, Michael M; Bodamer, Olaf O; Mühl, Adolf A; Rolfs, Arndt A
Publication Date: 2012

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 23430949
Variant Present in the following documents:
  • Main text
View BVdb publication page



A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotype-phenotype correlations.

Orphanet Journal Of Rare Diseases
Herzog, Andreas A; Hartung, Ralf R; Reuser, Arnold J J AJ; Hermanns, Pia P; Runz, Heiko H; Karabul, Nesrin N; Gökce, Seyfullah S; Pohlenz, Joachim J; Kampmann, Christoph C; Lampe, Christina C; Beck, Michael M; Mengel, Eugen E
Publication Date: 2012-06-07

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 22676651
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-35.pdf
View BVdb publication page



Predicting cross-reactive immunological material (CRIM) status in Pompe disease using GAA mutations: lessons learned from 10 years of clinical laboratory testing experience.

American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Bali, Deeksha S DS; Goldstein, Jennifer L JL; Banugaria, Suhrad S; Dai, Jian J; Mackey, Joanne J; Rehder, Catherine C; Kishnani, Priya S PS
Publication Date: 2012-02-15

Variant appearance in text: GAA: 1437+1G>A
PubMed Link: 22252923
Variant Present in the following documents:
  • Main text
View BVdb publication page