Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.N235del1
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SLC35C1

NM_018389.5:p.N235del1

Associated Papers

Genomic testing identifies monogenic causes in patients with very early-onset inflammatory bowel disease: a multicenter survey in an Iranian cohort.

Eslamian G et al.

Clinical and Experimental Immunology, 2024

Hematologically important mutations: Leukocyte adhesion deficiency (second update).

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

Congenital disorders of glycosylation with defective fucosylation.

Hüllen A et al.

Journal of Inherited Metabolic Disease, 2021

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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."