Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.M538V
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ASNS

NM_001673.5:p.M538V

Associated Papers

A novel variant in ASNS gene responsible for syndromic intellectual disability and microcephaly: Case report and literature review.

Jahanpanah M et al.

Molecular Genetics & Genomic Medicine, 2024

An intractable epilepsy phenotype of ASNS novel mutation in two patients with asparagine synthetase deficiency.

Liu L et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2022

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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."