Varaico: Literature-Extracted Genetic Variants

Gene:SMC3
Variant:p.R221*
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SMC3

NM_005445.4:p.R221*

Associated Papers

SMC3 contributes to heart development by regulating super-enhancer associated genes.

Zhang B et al.

Experimental & Molecular Medicine, 2024

Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.

Ansari M et al.

Hgg Advances, 2024

Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features.

Ansari M et al.

Medrxiv : the Preprint Server for Health Sciences, 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."