neutral amino acid transporter A isoform 2 [Homo sapiens]

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A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation. [Clin Neurol Neurosurg. 2022]
A rare cause of microcephaly, thin corpus callosum and refractory epilepsy due to a novel SLC1A4 gene mutation.
Sarigecili E, Bulut FD, Anlas O. Clin Neurol Neurosurg. 2022 Jul; 218:107283. Epub 2022 May 10.
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study. [J Neurogenet. 2018]
A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.
Pironti E, Salpietro V, Cucinotta F, Granata F, Mormina E, Efthymiou S, Scuderi C, Gagliano A, Houlden H, Di Rosa G. J Neurogenet. 2018 Dec; 32(4):316-321. Epub 2018 Jul 10.
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis. [J Hum Genet. 2016]
Novel European SLC1A4 variant: infantile spasms and population ancestry analysis.
Conroy J, Allen NM, Gorman K, O'Halloran E, Shahwan A, Lynch B, Lynch SA, Ennis S, King MD. J Hum Genet. 2016 Aug; 61(8):761-4. Epub 2016 May 19.

RefSeq genomic sequence
See the genomic reference sequence for the SLC1A4 gene (NG_053002.1).
RefSeq mRNA
See reference mRNA sequence for the SLC1A4 gene (NM_001193493.2).
RefSeq protein isoforms
See 4 reference sequence protein isoforms for the SLC1A4 gene.

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
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Transcript/Protein Information
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reagent reviews
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reagents [ExactAntigen/Labome]
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