tetratricopeptide repeat protein 8 isoform G [Homo sapiens]

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Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51). [Clin Genet. 2016]
Confirmation of TTC8 as a disease gene for nonsyndromic autosomal recessive retinitis pigmentosa (RP51).
Goyal S, Jäger M, Robinson PN, Vanita V. Clin Genet. 2016 Apr; 89(4):454-460. Epub 2015 Aug 25.
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa. [Am J Hum Genet. 2010]
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosa.
Riazuddin SA, Iqbal M, Wang Y, Masuda T, Chen Y, Bowne S, Sullivan LS, Waseem NH, Bhattacharya S, Daiger SP, et al. Am J Hum Genet. 2010 May 14; 86(5):805-12. Epub 2010 May 6.
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families. [J Hum Genet. 2006]
BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families.
Stoetzel C, Laurier V, Faivre L, Mégarbané A, Perrin-Schmitt F, Verloes A, Bonneau D, Mandel JL, Cossee M, Dollfus H. J Hum Genet. 2006; 51(1):81-84. Epub 2005 Nov 25.

RefSeq genomic sequence
See the genomic reference sequence for the TTC8 gene (NG_008126.2).
RefSeq mRNA
See reference mRNA sequence for the TTC8 gene (NM_001366535.2).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the TTC8 gene.

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Protein