Varaico: Literature-Extracted Genetic Variants

Gene:SMC1A
Variant:p.R469C
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SMC1A

NM_006306.4:p.R469C

Associated Papers

Diagnostic yield of next-generation sequencing in 87 families with neurodevelopmental disorders.

Álvarez-Mora MI et al.

Orphanet Journal of Rare Diseases, 2022

Efficient application of next-generation sequencing for the diagnosis of rare genetic syndromes.

Madrigal I et al.

Journal of Clinical Pathology, 2014

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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."