Varaico: Literature-Extracted Genetic Variants

Gene:OAT
Variant:p.W391delFs
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OAT

NM_000274.4:p.W391delFs

Associated Papers

Novel Insights Into Gyrate Atrophy of the Choroid and Retina (GACR): A Cohort Study.

Balfoort BM et al.

Journal of Inherited Metabolic Disease, 2025

Future of Dutch NGS-Based Newborn Screening: Exploring the Technical Possibilities and Assessment of a Variant Classification Strategy.

Kiewiet G et al.

International Journal of Neonatal Screening, 2024

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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."