Publications:

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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: Q386*

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1156C>T; Gln386Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Case Report: The novel hemizygous mutation in the SSR4 gene caused congenital disorder of glycosylation type iy: A case study and literature review.

Frontiers In Genetics

Wang, Jun J; Gou, Xingqing X; Wang, Xiyi X; Zhang, Jing J; Zhao, Nan N; Wang, Xiaohong X

Publication Date: 2022

Variant appearance in text: GAA: 1156C>T

PubMed Link: 36386804

Variant Present in the following documents:

• Table1.xls, sheet 1

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Genomic characterization between strains selected for death-feigning duration for avoiding attack of a beetle.

Scientific Reports

Tanaka, Keisuke K; Sasaki, Ken K; Matsumura, Kentarou K; Yajima, Shunsuke S; Miyatake, Takahisa T

Publication Date: 2021-11-08

Variant appearance in text: GAA: 1156C>T

PubMed Link: 34750398

Variant Present in the following documents:

• 41598_2021_987_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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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: 1156C>T

PubMed Link: 34356580

Variant Present in the following documents:

• Main text
• children-08-00601.pdf

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Systems biology analysis of the Clostridioides difficile core-genome contextualizes microenvironmental evolutionary pressures leading to genotypic and phenotypic divergence.

Npj Systems Biology And Applications

Norsigian, Charles J CJ; Danhof, Heather A HA; Brand, Colleen K CK; Oezguen, Numan N; Midani, Firas S FS; Palsson, Bernhard O BO; Savidge, Tor C TC; Britton, Robert A RA; Spinler, Jennifer K JK; Monk, Jonathan M JM

Publication Date: 2020-10-20

Variant appearance in text: GAA: Q386*

PubMed Link: 33082337

Variant Present in the following documents:

• 41540_2020_Article_151.pdf

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H3K27me3 expression and methylation status in histological variants of malignant peripheral nerve sheath tumours.

The Journal Of Pathology

Lyskjaer, Iben I; Lindsay, Daniel D; Tirabosco, Roberto R; Steele, Christopher D CD; Lombard, Patrick P; Strobl, Anna-Christina AC; Rocha, Ana M AM; Davies, Christopher C; Ye, Hongtao H; Bekers, Elise E; Ingruber, Julia J; Lechner, Matt M; Amary, Fernanda F; Pillay, Nischalan N; Flanagan, Adrienne M AM

Publication Date: 2020-10

Variant appearance in text: GAA: 1156C>T; Q386*

PubMed Link: 32666581

Variant Present in the following documents:

• PATH-252-151-s001.xlsx, sheet 3

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Clinical and molecular characterization of Korean children with infantile and late-onset Pompe disease: 10 years of experience with enzyme replacement therapy at a single center.

Korean Journal Of Pediatrics

Kim, Min-Sun MS; Song, Ari A; Im, Minji M; Huh, June J; Kang, I-Seok IS; Song, Jinyoung J; Yang, Aram A; Kim, Jinsup J; Kwon, Eun-Kyung EK; Choi, Eu-Jin EJ; Han, Sun-Ju SJ; Park, Hyung-Doo HD; Cho, Sung Yoon SY; Jin, Dong-Kyu DK

Publication Date: 2019-06

Variant appearance in text: GAA: 1156C>T

PubMed Link: 30360039

Variant Present in the following documents:

• Main text
• kjp-2018-06968.pdf

View BVdb publication page

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