Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.P6delFs
Back to variants list

SBDS

NM_016038.4:p.P6delFs

Associated Papers

The genetic landscape of congenital neutropenia in Poland: summary of the nationwide screening campaign.

Bąbol-Pokora K et al.

Frontiers in Immunology, 2025

41383606 (PubMed )
Supplement: Table1.xlsx › Arkusz1

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf

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."