Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.K200Q
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SMC1A

NM_006306.4:p.K200Q

Associated Papers

Clinical utility of DNA-methylation signatures in routine diagnostics for neurodevelopmental disorders.

Smits DJ et al.

European Journal of Human Genetics : Ejhg, 2025

Exome sequencing in fetuses with congenital diaphragmatic hernia in a nationwide cohort.

Weller K et al.

Prenatal Diagnosis, 2024

The role of a multidisciplinary team in managing variants of uncertain clinical significance in prenatal genetic diagnosis.

Diderich KEM et al.

European Journal of Medical Genetics, 2023

Clinical epigenomics: genome-wide DNA methylation analysis for the diagnosis of Mendelian disorders.

Sadikovic B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33547396 (PubMed )
Supplement: 41436_2020_1096_MOESM3_ESM.xlsx › Clinical
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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."