Varaico: Literature-Extracted Genetic Variants

Gene:UNC13D
Variant:p.V779M
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UNC13D

NM_199242.3:p.V779M

Associated Papers

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Matt MG et al.

The Lancet. Rheumatology, 2025

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.

Correia Marques M et al.

Arthritis & Rheumatology (hoboken, N.j.), 2024

Enrichment of Rare Variants of Hemophagocytic Lymphohistiocytosis Genes in Systemic Juvenile Idiopathic Arthritis.

Marques MC et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

DOCK8 Mutation in Patient with Juvenile Idiopathic Arthritis and Sjögren's Syndrome.

Opoka-Winiarska V et al.

International Journal of Molecular Sciences, 2024

HLH Syndrome in a Community Hospital: The Challenge of an Early Diagnosis.

Wagner Y et al.

Pediatric Health, Medicine and Therapeutics, 2024

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 115.81

Diagnostics of primary immunodeficiency diseases: a sequencing capture approach.

Moens LN et al.

Plos One, 2014

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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."