Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.R147C
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SLC35C1

NM_018389.5:p.R147C

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

Incorporation of fucose into glycans independent of the GDP-fucose transporter SLC35C1 preferentially utilizes salvaged over de novo GDP-fucose.

Skurska E et al.

The Journal of Biological Chemistry, 2022

Congenital disorders of glycosylation with defective fucosylation.

Hüllen A et al.

Journal of Inherited Metabolic Disease, 2021

Incidental diagnosis of leukocyte adhesion deficiency type II following ABO typing.

Cooper N et al.

Clinical Immunology (orlando, Fla.), 2020

Leukocyte adhesion defect: Where do we stand circa 2019?

Das J et al.

Genes & Diseases, 2020

Gateway to the Golgi: molecular mechanisms of nucleotide sugar transporters.

Parker JL et al.

Current Opinion in Structural Biology, 2019

Structural basis for mammalian nucleotide sugar transport.

Ahuja S et al.

Elife, 2019

Structural basis of nucleotide sugar transport across the Golgi membrane.

Parker JL et al.

Nature, 2017

Hematologically important mutations: leukocyte adhesion deficiency (first update).

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

Metabolic manipulation of glycosylation disorders in humans and animal models.

Freeze HH et al.

Seminars in Cell & Developmental Biology, 2010

Leukocyte adhesion deficiency type II: long-term follow-up and review of the literature.

Gazit Y et al.

Journal of Clinical Immunology, 2010

Leukocyte trafficking in primary immunodeficiencies.

Notarangelo LD et al.

Journal of Leukocyte Biology, 2009

Molecular physiology and pathology of the nucleotide sugar transporter family (SLC35).

Ishida N et al.

Pflugers Archiv : European Journal of Physiology, 2004

The gene defective in leukocyte adhesion deficiency II encodes a putative GDP-fucose transporter.

Lühn K et al.

Nature Genetics, 2001

Roles of the nucleotide sugar transporters (SLC35 family) in health and disease.

Song Z

Molecular Aspects of Medicine, 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."