RUNX2 c.580G>C ;(p.G194R)

Variant ID: 6-45399756-G-C

NM_001024630.3(RUNX2):c.580G>C;(p.G194R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical severity in Lesch-Nyhan disease: the role of residual enzyme and compensatory pathways.

Molecular Genetics And Metabolism
Fu, Rong R; Sutcliffe, Diane D; Zhao, Hong H; Huang, Xinyi X; Schretlen, David J DJ; Benkovic, Steve S; Jinnah, H A HA
Publication Date: 2015-01

Variant appearance in text: CCD: 580G>C
PubMed Link: 25481104
Variant Present in the following documents:
  • Main text
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