GAA c.118C>T ;(p.R40*)

Variant ID: 17-78078503-C-T

NM_000152.3(GAA):c.118C>T;(p.R40*)

This variant was identified in 18 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: GAA: 118C>T
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



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: 118C>T; Arg40Ter
PubMed Link: 36823319
Variant Present in the following documents:
  • 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6
View BVdb publication page



Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes.

Nature Genetics
Zhou, Xueya X; Feliciano, Pamela P; Shu, Chang C; Wang, Tianyun T; Astrovskaya, Irina I; Hall, Jacob B JB; Obiajulu, Joseph U JU; Wright, Jessica R JR; Murali, Shwetha C SC; Xu, Simon Xuming SX; Brueggeman, Leo L; Thomas, Taylor R TR; Marchenko, Olena O; Fleisch, Christopher C; Barns, Sarah D SD; Snyder, LeeAnne Green LG; Han, Bing B; Chang, Timothy S TS; Turner, Tychele N TN; Harvey, William T WT; Nishida, Andrew A; O'Roak, Brian J BJ; Geschwind, Daniel H DH; , ; Michaelson, Jacob J JJ; Volfovsky, Natalia N; Eichler, Evan E EE; Shen, Yufeng Y; Chung, Wendy K WK
Publication Date: 2022-09

Variant appearance in text: GAA: 118C>T; R40W
PubMed Link: 35982159
Variant Present in the following documents:
  • 41588_2022_1148_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



Clinical characteristics and survival of children with hypertrophic cardiomyopathy in China: A multicentre retrospective cohort study.

Eclinicalmedicine
Chan, Wenxiu W; Yang, Shiwei S; Wang, Jian J; Tong, Shilu S; Lin, Minyin M; Lu, Pengtao P; Yao, Ruen R; Wu, Lanping L; Chen, Lijun L; Guo, Ying Y; Shen, Jie J; Liu, Tingliang T; Li, Fen F; Chen, Huiwen H; Zhang, Hao H; Wang, Shushui S; Fu, Lijun L
Publication Date: 2022-07

Variant appearance in text: GAA: 118C>T; Arg40*
PubMed Link: 35747179
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Duchenne Muscular Dystrophy With Low Acidic α-Glucosidase Activity: Two Case Reports and Literature Review.

Frontiers In Pediatrics
He, Xiufang X; Li, Xuandi X; Lin, Yuese Y; Ba, Hongjun H; Peng, Huimin H; Zhang, Lili L; Zhu, Ling L; Qin, Youzhen Y; Li, Shujuan S
Publication Date: 2022

Variant appearance in text: GAA: 118C>T; Arg40*
PubMed Link: 35722482
Variant Present in the following documents:
  • Main text
  • fped-10-855510.pdf
View BVdb publication page



Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Orphanet Journal Of Rare Diseases
Huang, Xinwen X; Wu, Dingwen D; Zhu, Lin L; Wang, Wenjun W; Yang, Rulai R; Yang, Jianbin J; He, Qunyan Q; Zhu, Bingquan B; You, Ying Y; Xiao, Rui R; Zhao, Zhengyan Z
Publication Date: 2022-02-21

Variant appearance in text: GAA: 118C>T
PubMed Link: 35193651
Variant Present in the following documents:
  • 13023_2022_2231_MOESM2_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: 118C>T
PubMed Link: 34356580
Variant Present in the following documents:
  • Main text
  • children-08-00601.pdf
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: 118C>T; Arg40Ter; rs767409395
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



Rare Variants in Autophagy and Non-Autophagy Genes in Late-Onset Pompe Disease: Suggestions of Their Disease-Modifying Role in Two Italian Families.

International Journal Of Molecular Sciences
Napolitano, Filomena F; Bruno, Giorgia G; Terracciano, Chiara C; Franzese, Giuseppina G; Palomba, Nicole Piera NP; Scotto di Carlo, Federica F; Signoriello, Elisabetta E; De Blasiis, Paolo P; Navarro, Stefano S; Gialluisi, Alessandro A; Melone, Mariarosa Anna Beatrice MAB; Sampaolo, Simone S; Esposito, Teresa T
Publication Date: 2021-03-31

Variant appearance in text: GAA: 118C>T; R40X
PubMed Link: 33807278
Variant Present in the following documents:
  • Main text
  • ijms-22-03625.pdf
View BVdb publication page



Design of efficacious somatic cell genome editing strategies for recessive and polygenic diseases.

Nature Communications
Carlson-Stevermer, Jared J; Das, Amritava A; Abdeen, Amr A AA; Fiflis, David D; Grindel, Benjamin I BI; Saxena, Shivani S; Akcan, Tugce T; Alam, Tausif T; Kletzien, Heidi H; Kohlenberg, Lucille L; Goedland, Madelyn M; Dombroe, Micah J MJ; Saha, Krishanu K
Publication Date: 2020-12-08

Variant appearance in text: GAA: 118C>T
PubMed Link: 33293555
Variant Present in the following documents:
  • 41467_2020_20065_MOESM1_ESM.pdf
View BVdb publication page



Loss of heterozygosity of essential genes represents a widespread class of potential cancer vulnerabilities.

Nature Communications
Nichols, Caitlin A CA; Gibson, William J WJ; Brown, Meredith S MS; Kosmicki, Jack A JA; Busanovich, John P JP; Wei, Hope H; Urbanski, Laura M LM; Curimjee, Naomi N; Berger, Ashton C AC; Gao, Galen F GF; Cherniack, Andrew D AD; Dhe-Paganon, Sirano S; Paolella, Brenton R BR; Beroukhim, Rameen R
Publication Date: 2020-05-20

Variant appearance in text: GAA: 118C>T; Arg40Trp
PubMed Link: 32433464
Variant Present in the following documents:
  • 41467_2020_16399_MOESM5_ESM.xlsx, sheet 1
  • 41467_2020_16399_MOESM7_ESM.xlsx, sheet 1
View BVdb publication page



ZP4 confers structural properties to the zona pellucida essential for embryo development.

Elife
Lamas-Toranzo, Ismael I; Fonseca Balvís, Noelia N; Querejeta-Fernández, Ana A; Izquierdo-Rico, María José MJ; González-Brusi, Leopoldo L; Lorenzo, Pedro L PL; García-Rebollar, Pilar P; Avilés, Manuel M; Bermejo-Álvarez, Pablo P
Publication Date: 2019-10-22

Variant appearance in text: GAA: 118C>T
PubMed Link: 31635692
Variant Present in the following documents:
  • elife-48904-supp2.xlsx, sheet 1
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: 118C>T; Arg40Ter
PubMed Link: 31342611
Variant Present in the following documents:
  • HUMU-40-2146-s001.pdf
View BVdb publication page



A New Integrated Newborn Screening Workflow Can Provide a Shortcut to Differential Diagnosis and Confirmation of Inherited Metabolic Diseases.

Yonsei Medical Journal
Ko, Jung Min JM; Park, Kyung Sun KS; Kang, Yeeok Y; Nam, Seong Hyeuk SH; Kim, Yoonjung Y; Park, Inho I; Chae, Hyun Wook HW; Lee, Soon Min SM; Lee, Kyung A KA; Kim, Jong Won JW
Publication Date: 2018-07

Variant appearance in text: GAA: 118C>T
PubMed Link: 29869463
Variant Present in the following documents:
  • Main text
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: R40X
PubMed Link: 29124014
Variant Present in the following documents:
  • Main text
  • main.pdf
View BVdb publication page



Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports
Masat, Elisa E; Laforêt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,
Publication Date: 2016-11-04

Variant appearance in text: GAA: 118C>T
PubMed Link: 27812025
Variant Present in the following documents:
  • srep36182-s1.pdf
View BVdb publication page



Distinct disease phenotypes linked to different combinations of GAA mutations in a large late-onset GSDII sibship.

Orphanet Journal Of Rare Diseases
Sampaolo, Simone S; Esposito, Teresa T; Farina, Olimpia O; Formicola, Daniela D; Diodato, Daria D; Gianfrancesco, Fernando F; Cipullo, Federica F; Cremone, Gaetana G; Cirillo, Mario M; Del Viscovo, Luca L; Toscano, Antonio A; Angelini, Corrado C; Di Iorio, Giuseppe G
Publication Date: 2013-10-10

Variant appearance in text: GAA: 118C>T; R40X
PubMed Link: 24107549
Variant Present in the following documents:
  • Main text
  • 1750-1172-8-159.pdf
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: 118C>T; Arg40X
PubMed Link: 22676651
Variant Present in the following documents:
  • Main text
  • 1750-1172-7-35.pdf
View BVdb publication page