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: 1256A>T

PubMed Link: 37087497

Variant Present in the following documents:

• 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1

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A Generic Assay to Detect Aberrant ARSB Splicing and mRNA Degradation for the Molecular Diagnosis of MPS VI.

Molecular Therapy. Methods & Clinical Development

Broeders, Mike M; Smits, Kasper K; Goynuk, Busra B; Oussoren, Esmee E; van den Hout, Hannerieke J M P HJMP; Bergsma, Atze J AJ; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2020-12-11

Variant appearance in text: GAA: 1256A>T

PubMed Link: 33209960

Variant Present in the following documents:

• Main text

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A generic assay for the identification of splicing variants that induce nonsense-mediated decay in Pompe disease.

European Journal Of Human Genetics : Ejhg

Bergsma, Atze J AJ; In 't Groen, Stijn L M SLM; Catalano, Fabio F; Yamanaka, Manjiro M; Takahashi, Satoru S; Okumiya, Toshika T; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2021-03

Variant appearance in text: GAA: 1256A>T

PubMed Link: 33168984

Variant Present in the following documents:

• Main text
• 41431_2020_Article_751.pdf

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Structure of human lysosomal acid α-glucosidase-a guide for the treatment of Pompe disease.

Nature Communications

Roig-Zamboni, Véronique V; Cobucci-Ponzano, Beatrice B; Iacono, Roberta R; Ferrara, Maria Carmina MC; Germany, Stanley S; Bourne, Yves Y; Parenti, Giancarlo G; Moracci, Marco M; Sulzenbacher, Gerlind G

Publication Date: 2017-10-24

Variant appearance in text: GAA: D419V

PubMed Link: 29061980

Variant Present in the following documents:

• 41467_2017_1263_MOESM1_ESM.pdf

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From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides.

Molecular Therapy. Nucleic Acids

Bergsma, Atze J AJ; In 't Groen, Stijn Lm SL; Verheijen, Frans W FW; van der Ploeg, Ans T AT; Pijnappel, W W M Pim WWMP

Publication Date: 2016-09-13

Variant appearance in text: GAA: 1256A>T; D419V

PubMed Link: 27623443

Variant Present in the following documents:

• Main text
• mtna201675a.pdf
• mtna201675x1.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: GAA: D419V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 2

View BVdb publication page

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