protein TALPID3 isoform X12 [Homo sapiens]

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Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis. [Mol Genet Genomic Med. 2023]
Compound heterozygous splicing variants in KIAA0586 cause fetal short-rib thoracic dysplasia and cerebellar malformation: Use of exome sequencing in prenatal diagnosis.
Zhao Q, Xu B, Xiang Q, Tan Y, Xie H, Gao Q, Wen L, Wang H, Yang M, Liu S. Mol Genet Genomic Med. 2023 Mar; 11(3):e2124. Epub 2022 Dec 20.
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report. [BMC Med Genet. 2020]
Sudden death in epilepsy and ectopic neurohypophysis in Joubert syndrome 23 diagnosed using SNVs/indels and structural variants pipelines on WGS data: a case report.
Sumathipala D, Strømme P, Gilissen C, Einarsen IH, Bjørndalen HJ, Server A, Corominas J, Hassel B, Fannemel M, Misceo D, et al. BMC Med Genet. 2020 May 7; 21(1):96. Epub 2020 May 7.
TALPID3 in Joubert syndrome and related ciliopathy disorders. [Curr Opin Genet Dev. 2019]
TALPID3 in Joubert syndrome and related ciliopathy disorders.
Fraser AM, Davey MG. Curr Opin Genet Dev. 2019 Jun; 56:41-48. Epub 2019 Jul 19.

RefSeq genomic sequence
See the genomic reference sequence for the KIAA0586 gene (NG_051335.2).
RefSeq mRNA
See reference mRNA sequence for the KIAA0586 gene (XM_047432008.1).
RefSeq protein isoforms
See 55 reference sequence protein isoforms for the KIAA0586 gene.

RNA polymerase II largest subunit, partial [[Candida] chilensis]
RNA polymerase II largest subunit, partial [[Candida] chilensis]
gi|169247144|gb|ACA51463.1|

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