Varaico: Literature-Extracted Genetic Variants

Gene:LYST
Variant:p.T118_Q119insG
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LYST

NM_000081.4:p.T118_Q119insG

Associated Papers

Identification of a compound heterozygote in LYST gene: a case report on Chediak-Higashi syndrome.

Song Y et al.

Bmc Medical Genetics, 2020

31906877 (PubMed )
Supplement: 12881_2019_922_MOESM5_ESM.xlsx › Sheet2

Whole Genome Sequencing Identifies Novel Compound Heterozygous Lysosomal Trafficking Regulator Gene Mutations Associated with Autosomal Recessive Chediak-Higashi Syndrome.

Jin Y et al.

Scientific Reports, 2017

Chediak-Higashi syndrome: novel mutation of the CHS1/LYST gene in 3 Omani patients.

Al-Tamemi S et al.

Journal of Pediatric Hematology/oncology, 2014

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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."