Varaico: Literature-Extracted Genetic Variants

Gene:NFATC2
Variant:p.Y675_H676delFs
Back to variants list

NFATC2

NM_012340.5:p.Y675_H676delFs

Associated Papers

Human complete NFAT1 deficiency causes a triad of joint contractures, osteochondromas, and B-cell malignancy.

Sharma M et al.

Blood, 2022

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.

Elliott AM et al.

Hgg Advances, 2022

35599849 (PubMed )
Supplement: mmc5.xlsx › Full_list
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."