Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.G3309S
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LYST

NM_000081.4:p.G3309S

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

LYST deficiency impairs autophagic lysosome reformation in neurons and alters lysosome number and size.

Serra-Vinardell J et al.

Cellular and Molecular Life Sciences : Cmls, 2023

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