Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K98_E99delFs
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SBDS

NM_016038.4:p.K98_E99delFs

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

Clinical and genetic characteristics of Chinese patients with Shwachman Diamond syndrome: a literature review of Chinese publication.

Wang L et al.

Experimental Biology and Medicine (maywood, N.j.), 2024

Hematologic complications with age in Shwachman-Diamond syndrome.

Furutani E et al.

Blood Advances, 2022

34758064 (PubMed )
Supplement: advancesADV2021005539-suppl1.pdf

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E et al.

Blood Cells, Molecules & Diseases, 0

Clinical and genetic spectrum of SBDS and DNAJC21 gene variants in bone marrow failure cases: Atypical and cryptic presentations.

Palla S et al.

Blood Cells, Molecules & Diseases, 0

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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."