Publications:

Systematic errors in annotations of truncations, loss-of-function and synonymous variants.

Frontiers In Genetics

Vihinen, Mauno M

Publication Date: 2023

Variant appearance in text: DMD: Trp24*

PubMed Link: 36713076

Variant Present in the following documents:

• Main text
• fgene-14-1015017.pdf

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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: DMD: 72G>A; Trp24*

PubMed Link: 35722482

Variant Present in the following documents:

• Main text
• fped-10-855510.pdf

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The position of nonsense mutations can predict the phenotype severity: A survey on the DMD gene.

Plos One

Torella, Annalaura A; Zanobio, Mariateresa M; Zeuli, Roberta R; Del Vecchio Blanco, Francesca F; Savarese, Marco M; Giugliano, Teresa T; Garofalo, Arcomaria A; Piluso, Giulio G; Politano, Luisa L; Nigro, Vincenzo V

Publication Date: 2020

Variant appearance in text: DMD: 72G>A; Trp24*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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