Varaico: Literature-Extracted Genetic Variants

Gene:NDST1
Variant:p.R709Q
Back to variants list

NDST1

NM_001543.5:p.R709Q

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

Systematic analysis of the intersection of disease mutations with protein modifications.

Simpson CM et al.

Bmc Medical Genomics, 2019

31345222 (PubMed )
Supplement: 12920_2019_543_MOESM8_ESM.xlsx › S6B

NDST1 missense mutations in autosomal recessive intellectual disability.

Reuter MS et al.

American Journal of Medical Genetics. Part A, 2014

Genetics of recessive cognitive disorders.

Musante L et al.

Trends in Genetics : Tig, 2014

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."