AP-4 complex subunit beta-1 isoform X3 [Homo sapiens]

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AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range. [Eur J Med Genet. 2022]
AP4B1-associated hereditary spastic paraplegia: Expansion of clinico-genetic phenotype and geographic range.
Salayev K, Rocca C, Kaiyrzhanov R, Guliyeva U, Guliyeva S, Mursalova A, Rahman F, Anwar N, Zafar F, Jan F, et al. Eur J Med Genet. 2022 Nov; 65(11):104620. Epub 2022 Sep 16.
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant. [J Appl Genet. 2020]
AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.
Szczałuba K, Mierzewska H, Śmigiel R, Kosińska J, Koppolu A, Biernacka A, Stawiński P, Pollak A, Rydzanicz M, Płoski R. J Appl Genet. 2020 May; 61(2):213-218. Epub 2020 Mar 12.
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies. [Am J Med Genet A. 2018]
A novel homozygous AP4B1 mutation in two brothers with AP-4 deficiency syndrome and ocular anomalies.
Accogli A, Hamdan FF, Poulin C, Nassif C, Rouleau GA, Michaud JL, Srour M. Am J Med Genet A. 2018 Apr; 176(4):985-991. Epub 2018 Feb 12.

RefSeq genomic sequence
See the genomic reference sequence for the AP4B1 gene (NG_031901.1).
RefSeq mRNA
See reference mRNA sequence for the AP4B1 gene (XM_054333911.1).
RefSeq protein isoforms
See 28 reference sequence protein isoforms for the AP4B1 gene.

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