RUNX2 c.1051C>T ;(p.L351F)

Variant ID: 6-45512983-C-T

NM_001024630.3(RUNX2):c.1051C>T;(p.L351F)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Journal Of Clinical Immunology
Okada, Satoshi S; Asano, Takaki T; Moriya, Kunihiko K; Boisson-Dupuis, Stephanie S; Kobayashi, Masao M; Casanova, Jean-Laurent JL; Puel, Anne A
Publication Date: 2020-11

Variant appearance in text: CCD: L351F
PubMed Link: 32852681
Variant Present in the following documents:
  • Main text
View BVdb publication page



Generation and Characterization of an IgG4 Monomeric Fc Platform.

Plos One
Shan, Lu L; Colazet, Magali M; Rosenthal, Kim L KL; Yu, Xiang-Qing XQ; Bee, Jared S JS; Ferguson, Andrew A; Damschroder, Melissa M MM; Wu, Herren H; Dall'Acqua, William F WF; Tsui, Ping P; Oganesyan, Vaheh V
Publication Date: 2016

Variant appearance in text: CCD: L351F
PubMed Link: 27479095
Variant Present in the following documents:
  • Main text
  • pone.0160345.pdf
View BVdb publication page