Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.G323E
Back to variants list

FAM111A

NM_001312909.2:p.G323E

Associated Papers

Further delineation of phenotype and genotype of Kenny-Caffey syndrome type 2 (phenotype and genotype of KCS type 2).

Chen X et al.

Molecular Genetics & Genomic Medicine, 2024

Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.

Naicker D et al.

International Journal of Molecular Sciences, 2024

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

Schigt H et al.

The Journal of Clinical Endocrinology and Metabolism, 2023

Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.

Ohmachi Y et al.

Frontiers in Endocrinology, 2022

Kenny-Caffey Syndrome Type 2: A Unique Presentation and Craniofacial Analysis.

Turner AE et al.

The Journal of Craniofacial Surgery, 0

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."