Varaico: Literature-Extracted Genetic Variants

Gene:NDST1
Variant:p.R454C
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NDST1

NM_001543.5:p.R454C

Associated Papers

Predicted deleterious variants in the human genome relevant to gene therapy with adeno-associated virus vectors.

Rostami MR et al.

Molecular Therapy. Methods & Clinical Development, 2023

38089635 (PubMed )
Supplement: mmc2.xlsx › Supplemental_Table_II

Two Cases of Recessive Intellectual Disability Caused by NDST1 and METTL23 Variants.

Khan A et al.

Genes, 2020

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants.

Gupta A et al.

Clinical Case Reports, 2019

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