Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K148T
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SBDS

NM_016038.4:p.K148T

Associated Papers

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

Somatic genetic rescue of a germline ribosome assembly defect.

Tan S et al.

Nature Communications, 2021

34413298 (PubMed )
Supplement: 41467_2021_24999_MOESM2_ESM.xlsx › Feuil1

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Ball HL et al.

Human Molecular Genetics, 2009

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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."