Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.E5952*
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DST

NM_001374736.1:p.E5952*

Associated Papers

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Jacob M et al.

Brain : a Journal of Neurology, 2026

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Basel-Salmon L et al.

Genetics in Medicine Open, 2023

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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."