Varaico: Literature-Extracted Genetic Variants

Gene:SMC2
Variant:p.N984S
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SMC2

NM_006444.3:p.N984S

Associated Papers

Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.

Hollink IH et al.

Journal of Human Genetics, 2016

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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."