Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.I207L
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HEXB

NM_000521.4:p.I207L

Associated Papers

Incidence and carrier frequency of Sandhoff disease in Saskatchewan determined using a novel substrate with detection by tandem mass spectrometry and molecular genetic analysis.

Fitterer B et al.

Molecular Genetics and Metabolism, 2014

Biochemical consequences of mutations causing the GM2 gangliosidoses.

Mahuran DJ

Biochimica Et Biophysica Acta, 1999

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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."