Varaico: Literature-Extracted Genetic Variants

Gene:HEXB
Variant:p.W57*
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HEXB

NM_000521.4:p.W57*

Associated Papers

Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate.

Charng WL et al.

Bmc Medical Genomics, 2016

27435318 (PubMed )
Supplement: 12920_2016_208_MOESM1_ESM.xls › Table_S1
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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."