NHL repeat containing 1 [Homo sapiens]

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Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease. [Clin Neurol Neurosurg. 2022]
Compound heterozygosity for novel variations of the NHLRC1 Gene in a family with Lafora disease.
Tang X, Li X, Chen Y, Wu D. Clin Neurol Neurosurg. 2022 Jul; 218:107255. Epub 2022 Apr 25.
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey. [J Hum Genet. 2021]
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in Turkey.
Haryanyan G, Ozdemir O, Tutkavul K, Dervent A, Ayta S, Ozkara C, Salman B, Yucesan E, Kesim Y, Susgun S, et al. J Hum Genet. 2021 Dec; 66(12):1145-1151. Epub 2021 Jun 11.
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation. [Pediatr Neurol. 2011]
Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation.
Brackmann FA, Kiefer A, Agaimy A, Gencik M, Trollmann R. Pediatr Neurol. 2011 Jun; 44(6):475-7.

RefSeq genomic sequence
See the genomic reference sequence for the NHLRC1 gene (NG_016750.1).
RefSeq protein
See the reference protein sequence for E3 ubiquitin-protein ligase NHLRC1 (NP_940988.2).

Nucleotide
Nucleotide sequence from coding region
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Transcript/Protein Information [PANTHER Classification System]
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reagent reviews [ExactAntigen/Labome]
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Protein