Varaico: Literature-Extracted Genetic Variants

Gene:ASS1
Variant:p.R108Q
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ASS1

NM_054012.4:p.R108Q

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

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.

Zhang R et al.

Scientific Reports, 2021

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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."