Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.F452I
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ASNS

NM_001673.5:p.F452I

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

Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort.

Alharby E et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

Genomic and phenotypic delineation of congenital microcephaly.

Shaheen R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30214071 (PubMed )
Supplement: NIHMS1061370-supplement-1061370_Sup_MOESM2.xlsx › Sheet1
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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."