Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K118E
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SBDS

NM_016038.4:p.K118E

Associated Papers

Diffuse alterations in grey and white matter associated with cognitive impairment in Shwachman-Diamond syndrome: evidence from a multimodal approach.

Perobelli S et al.

Neuroimage. Clinical, 2015

Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.

André V et al.

Blood Cancer Journal, 2012

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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."