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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AASS

Variant:p.R146W

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AASS

NM_005763.4:p.R146W

hg38:chr7:122126411 G>A

Associated Papers

Amino Acid Metabolism in Liver Mitochondria: From Homeostasis to Disease.

Erdal R et al.

Metabolites, 2025

40710547 (PubMed )

A case of hyperlysinemia identified by urine newborn screening.

Yeganeh M et al.

Jimd Reports, 2023

37927488 (PubMed )

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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."