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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:chr10:124401841 T>C

Associated Papers

Genome-wide discovery of human splicing branchpoints.

Mercer TR et al.

Genome Research, 2015

25561518 (PubMed )

Supplement: supp_gr.182899.114_Supplemental_TableS3.xlsx › HGMD_motif

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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