Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.I83V
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SBDS

NM_016038.4:p.I83V

Associated Papers

Convergent somatic evolution commences in utero in a germline ribosomopathy.

Machado HE et al.

Nature Communications, 2023

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL et al.

Nature Communications, 2021

33637765 (PubMed )
Supplement: 41467_2021_21588_MOESM1_ESM.pdf
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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."