Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.V483A
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GLB1

NM_000404.4:p.V483A

Associated Papers

Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.

Sheth J et al.

Jimd Reports, 2024

Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.

Muñoz G et al.

Jimd Reports, 2020

Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.

Goyal M et al.

Annals of Indian Academy of Neurology, 0

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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."