Varaico: Literature-Extracted Genetic Variants

Gene:KHDRBS1
Variant:p.N171fs
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KHDRBS1

NM_006559.3:p.N171fs

Associated Papers

A genetic model of CEDNIK syndrome in zebrafish highlights the role of the SNARE protein Snap29 in neuromotor and epidermal development.

Mastrodonato V et al.

Scientific Reports, 2019

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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."