DMD c.1300_1302delinsTGG ;(p.L434W)

Variant ID: X-32662278-GAG-CCA

NM_004006.2(DMD):c.1300_1302delinsTGG;(p.L434W)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.

American Journal Of Human Genetics
Schwartz, Charles E CE; May, Melanie M MM; Carpenter, Nancy J NJ; Rogers, R Curtis RC; Martin, Judith J; Bialer, Martin G MG; Ward, Jewell J; Sanabria, Javier J; Marsa, Silvana S; Lewis, James A JA; Echeverri, Roberto R; Lubs, Herbert A HA; Voeller, Kytja K; Simensen, Richard J RJ; Stevenson, Roger E RE
Publication Date: 2005-07

Variant appearance in text: DMD: L434W
PubMed Link: 15889350
Variant Present in the following documents:
  • Main text
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