Homo sapiens peripherin 2 (PRPH2), mRNA

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PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort. [Int J Mol Sci. 2024]
PRPH2-Related Retinal Dystrophies: Mutational Spectrum in 103 Families from a Spanish Cohort.
Fernández-Caballero L, Martín-Merida I, Blanco-Kelly F, Avila-Fernandez A, Carreño E, Fernandez-San Jose P, Irigoyen C, Jimenez-Rolando B, Lopez-Grondona F, Mahillo I, et al. Int J Mol Sci. 2024 Mar 2; 25(5). Epub 2024 Mar 2.
Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant. [Klin Monbl Augenheilkd. 2023]
Clinical Heterogeneity in Two Siblings Harbouring a Heterozygous PRPH2 Pathogenic Variant.
Sanlialp A, Escher P, Schaller A, Todorova M. Klin Monbl Augenheilkd. 2023 Apr; 240(4):536-543. Epub 2023 Apr 25.
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review. [Int J Mol Sci. 2023]
New Insight into the Genotype-Phenotype Correlation of PRPH2-Related Diseases Based on a Large Chinese Cohort and Literature Review.
Wang Y, Wang J, Jiang Y, Zhu D, Ouyang J, Yi Z, Li S, Jia X, Xiao X, Sun W, et al. Int J Mol Sci. 2023 Apr 4; 24(7). Epub 2023 Apr 4.

RefSeq alternative splicing
See the other reference mRNA sequence splice variant for the PRPH2 gene (XM_054356148.1).
RefSeq protein product
See the reference protein sequence for peripherin-2 (NP_000313.2).

Protein
Protein sequence from Nucleotide coding region
PubMed
PubMed articles cited by Nucleotide sequence record
Taxonomy
Taxonomy sequences associated with Nucleotide record
Annotated Genomic
Genomic sequence records that have the current RNA records as annotated features marking the exons of genes.
BioSystems
BioSystems
CCDS
Link to Consensus CDS
Components (Core)
Links to Core components
Full text in PMC
Free full text articles in PMC
Functional Class
Functional class of the sequence domain architecture
Gene
Link to related Genes
OMIM
OMIM records associated with Nucleotide sequence
Probe
Related Probe entry
PubMed (RefSeq)
Link to RefSeq PubMed articles
PubMed (Weighted)
Links to pubmed

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