DDX10 c.1814C>A ;(p.P605Q)

Variant ID: 11-108594038-C-A

NM_004398.2(DDX10):c.1814C>A;(p.P605Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Somatic activating mutations in MAP2K1 cause melorheostosis.

Nature Communications
Kang, Heeseog H; Jha, Smita S; Deng, Zuoming Z; Fratzl-Zelman, Nadja N; Cabral, Wayne A WA; Ivovic, Aleksandra A; Meylan, Françoise F; Hanson, Eric P EP; Lange, Eileen E; Katz, James J; Roschger, Paul P; Klaushofer, Klaus K; Cowen, Edward W EW; Siegel, Richard M RM; Marini, Joan C JC; Bhattacharyya, Timothy T
Publication Date: 2018-04-11

Variant appearance in text: DDX10: P605Q
PubMed Link: 29643386
Variant Present in the following documents:
  • 41467_2018_3720_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page