Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.S41delFs
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SBDS

NM_016038.4:p.S41delFs

Associated Papers

Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.

Thompson AS et al.

Pediatric Research, 2022

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf

Structural and mutational analysis of the SBDS protein family. Insight into the leukemia-associated Shwachman-Diamond Syndrome.

Shammas C et al.

The Journal of Biological Chemistry, 2005

Phenotypic and genetic characterization of patients with features of "nonclassic" forms of cystic fibrosis.

Groman JD et al.

The Journal of Pediatrics, 2005

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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."