Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.R504L
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HEXA

NM_000520.6:p.R504L

Associated Papers

Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India.

Gowda VK et al.

Journal of Pediatric Genetics, 2022

Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

Molecular analysis of HEXA gene in Argentinean patients affected with Tay-Sachs disease: possible common origin of the prevalent c.459+5A>G mutation.

Zampieri S et al.

Gene, 2012

Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

Sheth J 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."