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: 2578G>A

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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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 2578G>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 2578G>A

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

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Combining genetic crosses and pool targeted DNA-seq for untangling genomic variations associated with resistance to multiple insecticides in the mosquito Aedes aegypti.

Evolutionary Applications

Cattel, Julien J; Faucon, Frédéric F; Le Péron, Bastien B; Sherpa, Stéphanie S; Monchal, Marie M; Grillet, Lucie L; Gaude, Thierry T; Laporte, Frederic F; Dusfour, Isabelle I; Reynaud, Stéphane S; David, Jean-Philippe JP

Publication Date: 2020-02

Variant appearance in text: GAA: 2578G>A

PubMed Link: 31993078

Variant Present in the following documents:

• EVA-13-303-s006.xlsx, sheet 1

View BVdb publication page

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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: D860N

PubMed Link: 29124014

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

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Variant discovery in the sheep milk transcriptome using RNA sequencing.

Bmc Genomics

Suárez-Vega, Aroa A; Gutiérrez-Gil, Beatriz B; Klopp, Christophe C; Tosser-Klopp, Gwenola G; Arranz, Juan José JJ

Publication Date: 2017-02-15

Variant appearance in text: GAA: 2578G>A

PubMed Link: 28202015

Variant Present in the following documents:

• 12864_2017_3581_MOESM1_ESM.xlsx, sheet 1

View BVdb publication page

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