gamma-tubulin complex component 6 [Homo sapiens]

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Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review. [Am J Med Genet A. 2023]
Biallelic variants in TUBGCP6 result in microcephaly and chorioretinopathy 1: Report of four cases and a literature review.
Thomas-Wilson A, Schacht JP, Chitayat D, Blaser S, Santos FJR, Glaser K, Caffo A, Wentzensen IM, Henderson LB, Zhang F, et al. Am J Med Genet A. 2023 Jul; 191(7):1935-1941. Epub 2023 Apr 9.
GCP6 is a substrate of Plk4 and required for centriole duplication. [J Cell Sci. 2012]
GCP6 is a substrate of Plk4 and required for centriole duplication.
Bahtz R, Seidler J, Arnold M, Haselmann-Weiss U, Antony C, Lehmann WD, Hoffmann I. J Cell Sci. 2012 Jan 15; 125(Pt 2):486-96. Epub 2012 Feb 2.
Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype. [Am J Med Genet A. 2007]
Microcephaly with chorioretinopathy in a brother-sister pair: evidence for germ line mosaicism and further delineation of the ocular phenotype.
Trzupek KM, Falk RE, Demer JL, Weleber RG. Am J Med Genet A. 2007 Jun 1; 143A(11):1218-22.

RefSeq genomic sequence
See the genomic reference sequence for the TUBGCP6 gene (NG_032160.2).
RefSeq mRNA
See reference mRNA sequence for the TUBGCP6 gene (NM_020461.4).

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NP_065194 [Domain Mapping of Disease Mut...]
NP_065194
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource

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