Varaico: Literature-Extracted Genetic Variants

Gene:SPEF2
Variant:p.Y473*
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SPEF2

NM_024867.4:p.Y473*

Associated Papers

Identification of a wide spectrum of ciliary gene mutations in nonsyndromic biliary atresia patients implicates ciliary dysfunction as a novel disease mechanism.

Lam WY et al.

Ebiomedicine, 2021

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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."