Varaico: Literature-Extracted Genetic Variants

Gene:SBDS
Variant:p.K98R
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SBDS

NM_016038.4:p.K98R

Associated Papers

General Trends in the Calnexin-Dependent Expression and Pharmacological Rescue of Clinical CFTR Variants.

Tedman A et al.

Biorxiv : the Preprint Server for Biology, 2025

40964320 (PubMed )
Supplement: media-1.pdf

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.

Kennedy AL et al.

Nature Communications, 2021

33637765 (PubMed )
Supplement: 41467_2021_21588_MOESM1_ESM.pdf
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