Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.F57L
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SBDS

NM_016038.4:p.F57L

Associated Papers

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf

Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.

Warren AJ

Advances in Biological Regulation, 2018

Mechanism of eIF6 release from the nascent 60S ribosomal subunit.

Weis F et al.

Nature Structural & Molecular Biology, 2015

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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."