Varaico: Literature-Extracted Genetic Variants

Gene:FCHO1
Variant:p.R650*
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FCHO1

NM_015122.3:p.R650*

Associated Papers

Successful Hematopoietic Stem Cell Transplantation in a Patient With FCHO1 Deficiency.

Esenboga S et al.

Pediatric Blood & Cancer, 2026

Human FCHO1 deficiency: review of the literature and additional two cases.

Özdemiral C et al.

Clinical and Experimental Immunology, 2025

Comprehensive exploration of FCHO1 mutations: Clinical manifestations and implications across disorders.

Alomari O et al.

American Journal of Medical Genetics. Part A, 2025

Human FCHO1 deficiency reveals role for clathrin-mediated endocytosis in development and function of T cells.

Łyszkiewicz M et al.

Nature Communications, 2020

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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."