Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.E95delFs
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HEXB

NM_000521.4:p.E95delFs

Associated Papers

Two-Year Follow-Up Magnetic Resonance Imaging and Spectroscopy Findings and Cerebrospinal Fluid Analysis of a Dog with Sandhoff's Disease.

Ito D et al.

Journal of Veterinary Internal Medicine, 2018

Real-time PCR genotyping assay for GM2 gangliosidosis variant 0 in toy poodles and the mutant allele frequency in Japan.

Rahman MM et al.

The Journal of Veterinary Medical Science, 2014

Magnetic resonance findings of the corpus callosum in canine and feline lysosomal storage diseases.

Hasegawa D et al.

Plos One, 2013

A frameshift mutation in the canine HEXB gene in toy poodles with GM2 gangliosidosis variant 0 (Sandhoff disease).

Rahman MM et al.

Veterinary Journal (london, England : 1997), 2012

DNA testing in neurologic diseases.

O'Brien DP et al.

Journal of Veterinary Internal Medicine, 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."