Varaico: Literature-Extracted Genetic Variants

Gene:CLN8
Variant:p.M28insFs
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CLN8

NM_018941.4:p.M28insFs

Associated Papers

A rare homozygous p.Arg87Trp variant of the GBA gene in Gaucher disease: A case report.

Jilani H et al.

Clinical Case Reports, 2022

Gaucher disease: insights from a rare Mendelian disorder.

Sidransky E

Discovery Medicine, 2012

Psychiatric and behavioral manifestations of lysosomal storage disorders.

Staretz-Chacham O et al.

American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics, 2010

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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."