AP-4 complex subunit sigma-1 isoform X1 [Homo sapiens]

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Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia. [Hum Mutat. 2020]
Utilizing RNA and outlier analysis to identify an intronic splice-altering variant in AP4S1 in a sibling pair with progressive spastic paraplegia.
McCullough CG, Szelinger S, Belnap N, Ramsey K, Schrauwen I, Claasen AM, Burke LW, Siniard AL, Huentelman MJ, Narayanan V, et al. Hum Mutat. 2020 Feb; 41(2):412-419. Epub 2019 Nov 14.
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families. [Eur J Neurol. 2016]
Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families.
Tessa A, Battini R, Rubegni A, Storti E, Marini C, Galatolo D, Pasquariello R, Santorelli FM. Eur J Neurol. 2016 Oct; 23(10):1580-7. Epub 2016 Jul 22.
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly. [Hum Mol Genet. 2015]
Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.
Hardies K, May P, Djémié T, Tarta-Arsene O, Deconinck T, Craiu D, AR working group of the EuroEPINOMICS RES Consortium, Helbig I, Suls A, Balling R, et al. Hum Mol Genet. 2015 Apr 15; 24(8):2218-27. Epub 2014 Dec 30.

RefSeq genomic sequence
See the genomic reference sequence for the AP4S1 gene (NG_031913.1).
RefSeq mRNA
See reference mRNA sequence for the AP4S1 gene (XM_005267293.6).

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OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
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