Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R256Q
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UNC13D

NM_199242.3:p.R256Q

Associated Papers

Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.

Nurden P et al.

Haematologica, 2021

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis.

Shibata H et al.

Blood, 2018

A CD57+ CTL Degranulation Assay Effectively Identifies Familial Hemophagocytic Lymphohistiocytosis Type 3 Patients.

Hori M et al.

Journal of Clinical Immunology, 2017

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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."