Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.K277R
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ASS1

NM_054012.4:p.K277R

Associated Papers

Clinical diagnosis of metabolic disorders using untargeted metabolomic profiling and disease-specific networks learned from profiling data.

Thistlethwaite LR et al.

Scientific Reports, 2022

Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis.

Alaimo JT et al.

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

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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."