Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.T53fs
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SMC1A

NM_006306.4:p.T53fs

Associated Papers

Expansion of the phenotypic spectrum of SMC1A nonsense variants: a patient with cerebellar atrophy and review of the literature.

Türkyilmaz A et al.

Clinical Dysmorphology, 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."