Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R196C
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SMC1A

NM_006306.4:p.R196C

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › A_Blood_as_normal

RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.

Kim T et al.

Scientific Reports, 2020

33208771 (PubMed )
Supplement: 41598_2020_76933_MOESM8_ESM.xlsx › TableS5

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies.

Yuan B et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

Structural Maintenance of Chromosomes protein 1: Role in Genome Stability and Tumorigenesis.

Yi F et al.

International Journal of Biological Sciences, 2017

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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."