Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.A388T
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ASS1

NM_054012.4:p.A388T

Associated Papers

Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.

Ou MM et al.

Frontiers in Pediatrics, 2025

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

Martín-Rivada Á et al.

Jimd Reports, 2022

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."