Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.K66_P68delFs
Back to variants list

ASNS

NM_001673.5:p.K66_P68delFs

Associated Papers

Case Report: a novel homozygous ASNS variant in a Chinese female with severe microcephaly, encephalopathy and epilepsy.

Cheng S et al.

Frontiers in Neuroscience, 2025

Clinical outcomes of two patients with a novel pathogenic variant in ASNS: response to asparagine supplementation and review of the literature.

Sprute R et al.

Human Genome Variation, 2019

Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.

Schleinitz D et al.

Frontiers in Genetics, 2018

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."