Varaico: Literature-Extracted Genetic Variants

Gene:SCYL1
Variant:p.C512fs
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SCYL1

NM_020680.4:p.C512fs

Associated Papers

On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure.

Spagnoli C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

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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."