Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.H261Y
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ASS1

NM_054012.4:p.H261Y

Associated Papers

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

Martín-Rivada Á et al.

Jimd Reports, 2022

The role of orotic acid measurement in routine newborn screening for urea cycle disorders.

Staretz-Chacham O et al.

Journal of Inherited Metabolic Disease, 2021

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population.

Wang T et al.

Frontiers in Genetics, 2019

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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."