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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:OAT

Variant:p.P300_V301Splc

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OAT

NM_000274.4:p.P300_V301Splc

hg38:chr10:124401840 C>T

Associated Papers

Ornithine Aminotransferase Deficiency in Differential Diagnosis of Neonatal Hyperammonemia: A Case with a Novel OAT Gene Mutation.

Zubarioglu T et al.

Indian Journal of Pediatrics, 2016

27037922 (PubMed )

A Novel Ornithine Aminotransferase Splice Site Mutation Causes Vitamin B6-Responsive Gyrate Atrophy.

Molaei Ramshe S et al.

Journal of Ophthalmic & Vision Research, 0

38638626 (PubMed )

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