Varaico: Literature-Extracted Genetic Variants

Gene:HEXA
Variant:p.S426fs
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HEXA

NM_000520.6:p.S426fs

Associated Papers

Prader-Willi syndrome and Tay-Sachs disease in association with mixed maternal uniparental isodisomy and heterodisomy 15 in a girl who also had isochromosome Xq.

Zeesman S et al.

American Journal of Medical Genetics. Part A, 2015

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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."