Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.L223_D224Splc
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HEXB

NM_000521.4:p.L223_D224Splc

Associated Papers

GM2 gangliosidoses in Spain: analysis of the HEXA and HEXB genes in 34 Tay-Sachs and 14 Sandhoff patients.

Gort L et al.

Gene, 2012

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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."