Varaico: Literature-Extracted Genetic Variants

Gene:DSTYK
Variant:p.Q547_I548Splc
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DSTYK

NM_015375.3:p.Q547_I548Splc

Associated Papers

Dstyk mutation leads to congenital scoliosis-like vertebral malformations in zebrafish via dysregulated mTORC1/TFEB pathway.

Sun X et al.

Nature Communications, 2020

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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."