Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K33insFs
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SBDS

NM_016038.4:p.K33insFs

Associated Papers

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Kawakami T et al.

The Tohoku Journal of Experimental Medicine, 2005

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E et al.

Human Genetics, 2004

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR et al.

Nature Genetics, 2003

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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."