Varaico: Literature-Extracted Genetic Variants

Gene:ASNS
Variant:p.N80S
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ASNS

NM_001673.5:p.N80S

Associated Papers

Recessive genomic and phenotypic variation in consanguineous families with cerebral palsy.

Bisarad P et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

41282771 (PubMed )
Supplement: media-1.xlsx › Supplementary_Table_3

Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.

Staklinski SJ et al.

Biorxiv : the Preprint Server for Biology, 2023

A method for measurement of human asparagine synthetase (ASNS) activity and application to ASNS protein variants associated with ASNS deficiency.

Chang MC et al.

Biology Methods & Protocols, 2023

Analysis of Enzyme Activity and Cellular Function for the N80S and S480F Asparagine Synthetase Variants Expressed in a Child with Asparagine Synthetase Deficiency.

Staklinski SJ et al.

International Journal of Molecular Sciences, 2022

Analysis of the Whole-Exome Sequencing of Tumor and Circulating Tumor DNA in Metastatic Melanoma.

Diefenbach RJ et al.

Cancers, 2019

31795494 (PubMed )
Supplement: cancers-11-01905-s001.zip › cancers-620854-final-supplementary › cancers-620854-final-supplementary_-.xlsx › Table_S2
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