very long chain fatty acid elongase 1 isoform 2 [Homo sapiens]

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Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1. [Brain Dev. 2022]
Hypomyelinating spastic dyskinesia and ichthyosis caused by a homozygous splice site mutation leading to exon skipping in ELOVL1.
Takahashi T, Mercan S, Sassa T, Akçapınar GB, Yararbaş K, Süsgün S, İşeri SAU, Kihara A, Akçakaya NH. Brain Dev. 2022 Jun; 44(6):391-400. Epub 2022 Apr 2.
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy. [J Med Genet. 2019]
De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy.
Mueller N, Sassa T, Morales-Gonzalez S, Schneider J, Salchow DJ, Seelow D, Knierim E, Stenzel W, Kihara A, Schuelke M. J Med Genet. 2019 Mar; 56(3):164-175. Epub 2018 Nov 28.
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features. [J Med Genet. 2018]
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
Kutkowska-Kaźmierczak A, Rydzanicz M, Chlebowski A, Kłosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, et al. J Med Genet. 2018 Jun; 55(6):408-414. Epub 2018 Mar 1.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the ELOVL1 gene.

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