PAX3- and PAX7-binding protein 1 isoform 1 [Homo sapiens]

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A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia. [Clin Genet. 2017]
A homozygous potentially pathogenic variant in the PAXBP1 gene in a large family with global developmental delay and myopathic hypotonia.
Alharby E, Albalawi AM, Nasir A, Alhijji SA, Mahmood A, Ramzan K, Abdusamad F, Aljohani A, Abdelsalam O, Eldardear A, et al. Clin Genet. 2017 Dec; 92(6):579-586. Epub 2017 Sep 15.
Exceptional expansion and conservation of a CT-repeat complex in the core promoter of PAXBP1 in primates. [Am J Primatol. 2014]
Exceptional expansion and conservation of a CT-repeat complex in the core promoter of PAXBP1 in primates.
Mohammadparast S, Bayat H, Biglarian A, Ohadi M. Am J Primatol. 2014 Aug; 76(8):747-56. Epub 2014 Feb 21.
The origins, evolution, and functional potential of alternative splicing in vertebrates. [Mol Biol Evol. 2011]
The origins, evolution, and functional potential of alternative splicing in vertebrates.
Mudge JM, Frankish A, Fernandez-Banet J, Alioto T, Derrien T, Howald C, Reymond A, Guigó R, Hubbard T, Harrow J. Mol Biol Evol. 2011 Oct; 28(10):2949-59. Epub 2011 May 6.

RefSeq mRNA
See reference mRNA sequence for the PAXBP1 gene (NM_016631.4).
RefSeq protein isoforms
See 10 reference sequence protein isoforms for the PAXBP1 gene.

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OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
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reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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