Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.M1insFs
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HEXB

NM_000521.4:p.M1insFs

Associated Papers

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

Gowda VK et al.

Journal of Pediatric Genetics, 2022

The juvenile gangliosidoses: A timeline of clinical change.

King KE et al.

Molecular Genetics and Metabolism Reports, 2020

Clinical and Molecular Characteristics of Two Chinese Children with Infantile Sandhoff Disease and Review of the Literature.

Liu M et al.

Journal of Molecular Neuroscience : Mn, 2020

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

Ou L et al.

Molecular Genetics and Metabolism Reports, 2019

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study.

Nestrasil I et al.

Molecular Genetics and Metabolism, 2018

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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."