Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.L891P
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UNC13D

NM_199242.3:p.L891P

Associated Papers

Hereditary Anemias as a Monogenic Etiology for Nonimmune Hydrops Fetalis.

Makhamreh MM et al.

Clinical Therapeutics, 2026

Hemophagocytic lymphohistiocytosis mimicking neonatal hemochromatosis.

Broglie L et al.

Pediatric Hematology and Oncology, 2019

Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis type 3.

Sieni E et al.

Journal of Medical Genetics, 2011

Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A.

Zur Stadt U et al.

Human Mutation, 2006

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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."