Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.L451V
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HEXA

NM_000520.6:p.L451V

Associated Papers

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

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

Three novel mutations in Iranian patients with Tay-Sachs disease.

Jamali S et al.

Iranian Biomedical Journal, 2014

Specific mutations in the HEXA gene among Iraqi Jewish Tay-Sachs disease carriers: dating of founder ancestor.

Karpati M et al.

Neurogenetics, 2004

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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."