Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.I724M
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LYST

NM_000081.4:p.I724M

Associated Papers

An investigation of a hemophilia A female with heterozygous intron 22 inversion and skewed X chromosome inactivation.

Tan X et al.

Frontiers in Genetics, 2024

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

Pathogenic Gene Mutations or Variants Identified by Targeted Gene Sequencing in Adults With Hemophagocytic Lymphohistiocytosis.

Miao Y et al.

Frontiers in Immunology, 2019

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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."