Varaico: Literature-Extracted Genetic Variants

Gene:HYLS1
Variant:p.*300Y
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HYLS1

NM_001134793.2:p.*300Y

Associated Papers

The first two non-Finnish HYLS1 variants: Expanding the phenotypic spectrum of hydrolethalus syndrome.

Ghesh L et al.

Clinical Genetics, 2021

A novel HYLS1 homozygous mutation in living siblings with Joubert syndrome.

Oka M et al.

Clinical Genetics, 2016

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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."