Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.V80F
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SMC1A

NM_006306.4:p.V80F

Associated Papers

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes.

Jezela-Stanek A et al.

Molecular Genetics & Genomic Medicine, 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."