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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMC1A

Variant:p.E793_E795del3

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SMC1A

NM_006306.4:p.E793_E795del3

hg38:chrX:53403600 TTTCTTCCTC>T

Associated Papers

Postzygotic mosaicism in SMC1A and the first reported case of a female with Cornelia de Lange syndrome.

Gil-Salvador M et al.

Scientific Reports, 2025

40593079 (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."