Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.R427Q
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UNC13D

NM_199242.3:p.R427Q

Associated Papers

Inborn errors of immunity underlie clonal T cell expansions in large granular lymphocyte leukemia.

Bravo-Perez C et al.

The Journal of Clinical Investigation, 2025

40309770 (PubMed )
Supplement: jci-135-184431-s106.xlsx › Table_S2

A Case Report of Pregnancy Complicated with Primary Hemophagocytic Lymphohistiocytosis.

Chen Y et al.

International Journal of Women's Health, 2024

T Cell Defects: New Insights Into the Primary Resistance Factor to CD19/CD22 Cocktail CAR T-Cell Immunotherapy in Diffuse Large B-Cell Lymphoma.

Wang J et al.

Frontiers in Immunology, 2022

Genetic profiles of subcutaneous panniculitis-like T-cell lymphoma and clinicopathological impact of HAVCR2 mutations.

Koh J et al.

Blood Advances, 2021

34535012 (PubMed )
Supplement: advancesADV2021004562-suppl2.xlsx › S8

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.

Miao Y et al.

Frontiers in Immunology, 2019

Genetic variant spectrum in 265 Chinese patients with hemophagocytic lymphohistiocytosis: Molecular analyses of PRF1, UNC13D, STX11, STXBP2, SH2D1A, and XIAP.

Chen X et al.

Clinical Genetics, 2018

Primary hemophagocytic lymphohistiocytosis in adults: the utility of family surveys in a single-center study from China.

Jin Z et al.

Orphanet Journal of Rare Diseases, 2018

Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Silver AJ et al.

Genetic Testing and Molecular Biomarkers, 2016

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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."