peripherin [Homo sapiens]

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A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy. [Nat Commun. 2019]
A PRPH splice-donor variant associates with reduced sural nerve amplitude and risk of peripheral neuropathy.
Bjornsdottir G, Ivarsdottir EV, Bjarnadottir K, Benonisdottir S, Gylfadottir SS, Arnadottir GA, Benediktsson R, Halldorsson GH, Helgadottir A, Jonasdottir A, et al. Nat Commun. 2019 Apr 16; 10(1):1777. Epub 2019 Apr 16.
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln. [Ophthalmic Genet. 2019]
Recessive pediatric-onset cone-rod dysfunction or dominant maculopathy in a consanguineous family harboring the peripherin mutation p.Arg220Gln.
Khan AO. Ophthalmic Genet. 2019 Feb; 40(1):60-63.
Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus. [Cell Chem Biol. 2016]
Discovery of Phosphorylated Peripherin as a Major Humoral Autoantigen in Type 1 Diabetes Mellitus.
Doran TM, Morimoto J, Simanski S, Koesema EJ, Clark LF, Pels K, Stoops SL, Pugliese A, Skyler JS, Kodadek T. Cell Chem Biol. 2016 May 19; 23(5):618-628. Epub 2016 May 12.

RefSeq genomic sequence
See the genomic reference sequence for the PRPH gene (NG_008354.1).
RefSeq mRNA
See reference mRNA sequence for the PRPH gene (NM_006262.4).

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NP_006253 [Domain Mapping of Disease Mut...]
NP_006253
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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