DMD c.6992A>G ;(p.E2331G)

Variant ID: X-31893411-T-C

NM_004006.2(DMD):c.6992A>G;(p.E2331G)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.

Orphanet Journal Of Rare Diseases
Audo, Isabelle I; Bujakowska, Kinga M KM; Léveillard, Thierry T; Mohand-Saïd, Saddek S; Lancelot, Marie-Elise ME; Germain, Aurore A; Antonio, Aline A; Michiels, Christelle C; Saraiva, Jean-Paul JP; Letexier, Mélanie M; Sahel, José-Alain JA; Bhattacharya, Shomi S SS; Zeitz, Christina C
Publication Date: 2012-01-25

Variant appearance in text: DMD: 6992A>G; E2331G
PubMed Link: 22277662
Variant Present in the following documents:
  • Main text
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