Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.R145*
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LYST

NM_000081.4:p.R145*

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

Diagnosis of Chediak Higashi disease in a 67-year old woman.

Yarnell DS et al.

American Journal of Medical Genetics. Part A, 2020

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