Varaico: Literature-Extracted Genetic Variants

Gene:FAM111A
Variant:p.M514I
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FAM111A

NM_001312909.2:p.M514I

Associated Papers

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

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.

Rosato S et al.

Genes, 2022

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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."