protein TALPID3 isoform X14 [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_047432010.1).
RefSeq protein isoforms
See 55 reference sequence protein isoforms for the KIAA0586 gene.

protein TALPID3 isoform X14 [Homo sapiens]
protein TALPID3 isoform X14 [Homo sapiens]
gi|2217299137|ref|XP_047287966.1|

Protein
Incest
Incest
Sexual intercourse between persons so closely related that they are forbidden by law to marry.<br/>Year introduced: 1967

MeSH
High-Frequency Jet Ventilation
High-Frequency Jet Ventilation
Respiratory support system used primarily with rates of about 100 to 200/min with volumes of from about one to three times predicted anatomic dead space. Used to treat respira...<br/>Year introduced: 1988

MeSH
Brachial Plexus Neuritis
Brachial Plexus Neuritis
A syndrome associated with inflammation of the BRACHIAL PLEXUS. Clinical features include severe pain in the shoulder region which may be accompanied by MUSCLE WEAKNESS and lo...<br/>Year introduced: 2000

MeSH
Myocardial Revascularization
Myocardial Revascularization
The restoration of blood supply to the myocardium. (From Dorland, 28th ed)<br/>Year introduced: 1973

MeSH

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Protein