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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMC1A

Variant:p.R586G

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SMC1A

NM_006306.4:p.R586G

hg38:chrX:53405648 G>C

Associated Papers

Theoretical Performance of Comprehensive Non-Invasive Prenatal Screening in Congenital Heart Defects.

Yang E et al.

Prenatal Diagnosis, 2026

41622117 (PubMed )

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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."