Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.N3728delFs
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LYST

NM_000081.4:p.N3728delFs

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

A novel frameshift mutation of Chediak-Higashi syndrome and treatment in the accelerated phase.

Wu XL et al.

Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2017

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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."