Varaico: Literature-Extracted Genetic Variants

Gene:SEMA5B
Variant:p.N224S
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SEMA5B

NM_001031702.4:p.N224S

Associated Papers

Mutations in CSTA, encoding Cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion.

Blaydon DC et al.

American Journal of Human Genetics, 2011

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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."