Varaico: Literature-Extracted Genetic Variants

Gene:DEGS1
Variant:p.A28fs
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DEGS1

NM_003676.4:p.A28fs

Associated Papers

A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.

Beale HC et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

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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."