Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.A487S
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SMC1A

NM_006306.4:p.A487S

Associated Papers

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.

Ewans LJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."