Varaico: Literature-Extracted Genetic Variants

Gene:SEPSECS
Variant:p.G130Splc
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SEPSECS

NM_016955.4:p.G130Splc

Associated Papers

Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases.

Bergant G 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."