Varaico: Literature-Extracted Genetic Variants

Gene:NDST1
Variant:p.A736V
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NDST1

NM_001543.5:p.A736V

Associated Papers

Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.

Khosrowabadi E et al.

Human Molecular Genetics, 2024

A dominant negative splice variant of the heparan sulfate biosynthesis enzyme NDST1 reduces heparan sulfate sulfation.

Missaghian P et al.

Glycobiology, 2022

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

Khan A et al.

Genes, 2020

A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.

Armstrong L et al.

American Journal of Medical Genetics. Part A, 2017

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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."