Varaico: Literature-Extracted Genetic Variants

Gene:NDST1
Variant:p.R329C
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NDST1

NM_001543.5:p.R329C

Associated Papers

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

Khosrowabadi E et al.

Human Molecular Genetics, 2024

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

Khan A et al.

Genes, 2020

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

Monies D et al.

Human Genetics, 2017

28600779 (PubMed )
Supplement: 439_2017_1821_MOESM1_ESM.xlsx › Sheet2
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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."