Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.K203E
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SMC1A

NM_006306.4:p.K203E

Associated Papers

[Analysis of genotypes and phenotypes of three children with Cornelia de Lange syndrome].

Zhao L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2023

Genetic and Phenotype Analysis of a Chinese Cohort of Infants and Children With Epilepsy.

Chuan Z et al.

Frontiers in Genetics, 2022

35571021 (PubMed )
Supplement: Table1.XLSX › Table_S1

[Cornelia de Lange syndrome caused by SMC1A gene variation in a child].

Lian RH et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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."