Varaico: Literature-Extracted Genetic Variants

Gene:HUWE1
Variant:p.K48_C49Splc
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HUWE1

NM_031407.7:p.K48_C49Splc

Associated Papers

Exome sequencing reveals a novel splice site variant in HUWE1 gene in patients with suspected Say-Meyer syndrome.

Muthusamy B et al.

European Journal of Medical Genetics, 2020

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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."