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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SEPHS1

Variant:p.P388insFs

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SEPHS1

NM_012247.5:p.P388insFs

hg38:chr10:13319156 C>CG

Associated Papers

Small patella syndrome: New clinical and molecular insights into a consistent phenotype.

Vanlerberghe C et al.

Clinical Genetics, 2017

29120062 (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."