KMT2D c.1712G>C ;(p.R571P)

Variant ID: 12-49445754-C-G

NM_003482.3(KMT2D):c.1712G>C;(p.R571P)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


De novo mutations in inhibitors of Wnt, BMP, and Ras/ERK signaling pathways in non-syndromic midline craniosynostosis.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Timberlake, Andrew T AT; Furey, Charuta G CG; Choi, Jungmin J; Nelson-Williams, Carol C; , ; Loring, Erin E; Galm, Amy A; Kahle, Kristopher T KT; Steinbacher, Derek M DM; Larysz, Dawid D; Persing, John A JA; Lifton, Richard P RP
Publication Date: 2017-08-29

Variant appearance in text: KMT2D: R571P
PubMed Link: 28808027
Variant Present in the following documents:
  • Main text
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