Varaico: Literature-Extracted Genetic Variants

Gene:SLC35C1
Variant:p.T308R
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SLC35C1

NM_018389.5:p.T308R

Associated Papers

In vivo evidence for GDP-fucose transport in the absence of transporter SLC35C1 and putative transporter SLC35C2.

Lu L et al.

The Journal of Biological Chemistry, 2023

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

Roos D et al.

Blood Cells, Molecules & Diseases, 2023

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

Cooper N et al.

Clinical Immunology (orlando, Fla.), 2020

Biallelic variants in SLC35C1 as a cause of isolated short stature with intellectual disability.

Knapp KM et al.

Journal of Human Genetics, 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

Single-center experience of N-linked Congenital Disorders of Glycosylation with a Summary of Molecularly Characterized Cases in Arabs.

Bastaki F et al.

Annals of Human Genetics, 2018

Structural basis of nucleotide sugar transport across the Golgi membrane.

Parker JL et al.

Nature, 2017

Identification of functional elements of the GDP-fucose transporter SLC35C1 using a novel Chinese hamster ovary mutant.

Zhang P et al.

Glycobiology, 2012

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

van de Vijver E et al.

Blood Cells, Molecules & Diseases, 2012

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

Gazit Y et al.

Journal of Clinical Immunology, 2010

Metabolic mimics: the disorders of N-linked glycosylation.

Patterson MC

Seminars in Pediatric Neurology, 2005

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

Ishida N et al.

Pflugers Archiv : European Journal of Physiology, 2004

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

Song Z

Molecular Aspects of Medicine, 0

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