Varaico: Literature-Extracted Genetic Variants

Gene:ASL
Variant:p.R385H
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ASL

NM_000048.4:p.R385H

Associated Papers

Coronary Vasospasm in a Patient With Argininosuccinic Aciduria.

Nagayoshi Y et al.

The American Journal of Cardiology, 2023

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria.

Zielonka M et al.

Human Mutation, 2020

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples.

Middha S et al.

Frontiers in Genetics, 2015

26257771 (PubMed )
Supplement: Table12.XLSX › snv.tier2

Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene.

Balmer C et al.

Human Mutation, 2014

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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."