Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.F57S
Back to variants list

SBDS

NM_016038.4:p.F57S

Associated Papers

Growth Patterns in Shwachman-Diamond Syndrome: Findings from the North American Shwachman-Diamond Syndrome Registry.

Schwarz L et al.

The Journal of Pediatrics, 2025

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf

The frequent and clinically benign anomalies of chromosomes 7 and 20 in Shwachman-diamond syndrome may be subject to further clonal variations.

Khan AW et al.

Molecular Cytogenetics, 2021

Variable clinical presentation of Shwachman-Diamond syndrome: update from the North American Shwachman-Diamond Syndrome Registry.

Myers KC et al.

The Journal of Pediatrics, 2014

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."