Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.Y2794fs
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LYST

NM_000081.4:p.Y2794fs

Associated Papers

Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.

Morimoto M et al.

Journal of Medical Genetics, 2024

The lysosomal trafficking regulator "LYST": an 80-year traffic jam.

Turner ME et al.

Frontiers in Immunology, 2024

38774881 (PubMed )
Supplement: DataSheet_1.pdf

Case Report: Partial Uniparental Disomy Unmasks a Novel Recessive Mutation in the LYST Gene in a Patient With a Severe Phenotype of Chédiak-Higashi Syndrome.

Boluda-Navarro M et al.

Frontiers in Immunology, 2021

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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."