Publications:

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: 10759G>T; Glu3587*

PubMed Link: 32813700

Variant Present in the following documents:

• Main text
• pone.0237803.pdf

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Next generation sequencing in the identification of a rare genetic disease from preconceptional couple screening to preimplantation genetic diagnosis.

Journal Of Prenatal Medicine

Dello Russo, Claudio C; Di Giacomo, Gianluca G; Mesoraca, Alvaro A; D'Emidio, Laura L; Iaconianni, Paola P; Minutolo, Elisa E; Lippa, Assunta A; Giorlandino, Claudio C

Publication Date: 2014

Variant appearance in text: DMD: 10759G>T; Glu3587Ter

PubMed Link: 25332755

Variant Present in the following documents:

• Main text

View BVdb publication page