DMD c.5584_5586del ;(p.K1862del)

Variant ID: X-32364060-CCTT-C

NM_004006.2(DMD):c.5584_5586del;(p.K1862del)

This variant was identified in 1 publication

View GRCh38 version.




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: Lys1862del
PubMed Link: 32813700
Variant Present in the following documents:
  • Main text
  • pone.0237803.pdf
View BVdb publication page