Varaico: Literature-Extracted Genetic Variants

Gene:SMN2
Variant:p.K51_H52Splc
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SMN2

NM_017411.4:p.K51_H52Splc

Associated Papers

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.

Hogan GJ et al.

Clinical Chemistry, 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."