Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.S39*
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SMC1A

NM_006306.4:p.S39*

Associated Papers

Characterization of functionally deficient SIM2 variants found in patients with neurological phenotypes.

Button EL et al.

The Biochemical Journal, 2022

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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."