cilia- and flagella-associated protein 418 isoform 1 [Homo sapiens]

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A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy. [Ophthalmic Genet. 2016]
A novel C8orf37 splice mutation and genotype-phenotype correlation for cone-rod dystrophy.
Rahner N, Nuernberg G, Finis D, Nuernberg P, Royer-Pokora B. Ophthalmic Genet. 2016 Sep; 37(3):294-300. Epub 2016 Feb 11.
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies. [Ophthalmic Genet. 2016]
C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies.
Khan AO, Decker E, Bachmann N, Bolz HJ, Bergmann C. Ophthalmic Genet. 2016 Sep; 37(3):290-3. Epub 2016 Feb 8.
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin. [Mol Vis. 2015]
Novel C8orf37 mutations cause retinitis pigmentosa in consanguineous families of Pakistani origin.
Ravesh Z, El Asrag ME, Weisschuh N, McKibbin M, Reuter P, Watson CM, Baumann B, Poulter JA, Sajid S, Panagiotou ES, et al. Mol Vis. 2015; 21:236-43. Epub 2015 Mar 7.

RefSeq genomic sequence
See the genomic reference sequence for the CFAP418 gene (NG_032804.1).
RefSeq mRNA
See reference mRNA sequence for the CFAP418 gene (NM_177965.4).
RefSeq protein isoforms
See the other reference sequence protein isoform for the CFAP418 gene (NP_001350189.1).

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Genome
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OMIM
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Protein (UniProtKB)
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PubMed (RefSeq)
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SNP
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NP_808880 [Domain Mapping of Disease Mut...]
NP_808880
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
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

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Protein