Homo sapiens chromosome 2 open reading frame 79, mRNA (cDNA clone MGC: - Nucleotide

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A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism. [Neuropediatrics. 2024]
A Homozygous PTRHD1 Missense Variant (p.Arg122Gln) in an Individual with Intellectual Disability, Generalized Epilepsy, and Juvenile Parkinsonism.
Gebert J, Brunet T, Wagner M, Rath J, Aull-Watschinger S, Pataraia E, Krenn M. Neuropediatrics. 2024 Jun; 55(3):209-212. Epub 2024 Jan 29.
Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response. [J Mol Med (Berl). 2023]
Elevation of hsa-miR-7-5p level mediated by CtBP1-p300-AP1 complex targets ATXN1 to trigger NF-κB-dependent inflammation response.
Lou LQ, Zhou WQ, Song X, Chen Z. J Mol Med (Berl). 2023 Mar; 101(3):223-235. Epub 2023 Jan 11.
Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population. [J Parkinsons Dis. 2022]
Rare Variant Analysis of PTRHD1 in Parkinson's Disease in the Chinese Population.
Li C, Ou R, Hou Y, Chen Y, Wei Q, Zhang L, Lin J, Liu K, Huang J, Chen X, et al. J Parkinsons Dis. 2022; 12(6):1917-1920.

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Nucleotide