Varaico: Literature-Extracted Genetic Variants

Gene:HYLS1
Variant:p.E42D
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HYLS1

NM_001134793.2:p.E42D

Associated Papers

Mutation spectrum of Joubert syndrome and related disorders among Arabs.

Ben-Salem S et al.

Human Genome Variation, 2014

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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."