Varaico: Literature-Extracted Genetic Variants

Gene:NDST1
Variant:p.F640L
Back to variants list

NDST1

NM_001543.5:p.F640L

Associated Papers

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

Khosrowabadi E et al.

Human Molecular Genetics, 2024

Diagnostic Yield and Novel Candidate Genes by Exome Sequencing in 152 Consanguineous Families With Neurodevelopmental Disorders.

Reuter MS et al.

Jama Psychiatry, 2017

NDST1 missense mutations in autosomal recessive intellectual disability.

Reuter MS et al.

American Journal of Medical Genetics. Part A, 2014

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."