Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.T81S
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SBDS

NM_016038.4:p.T81S

Associated Papers

Lethal Complications and Complex Genotypes in Shwachman Diamond Syndrome: Report of a Family with Recurrent Neonatal Deaths and a Case-Based Brief Review of the Literature.

Veltra D et al.

Children (basel, Switzerland), 2024

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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."