Varaico: Literature-Extracted Genetic Variants

Gene:DST
Variant:p.E3932*
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DST

NM_001144770.2:p.E3932*

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

DST variants are responsible for neurogenic arthrogryposis multiplex congenita enlarging the spectrum of type VI hereditary sensory autonomic neuropathy.

Capri Y et al.

Clinical Genetics, 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."