ceroid-lipofuscinosis, neuronal 6, late infantile, variant, isoform CR - Protein

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Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families. [Epilepsy Res. 2024]
Whole exome sequencing identifies variable expressivity of CLN6 variants in Progressive myoclonic epilepsy affected families.
Ilyas M, Tariq F, Ishaq R, Habiba U, Bibi F, Khan SN, Ali Y, Haider S, Efthymiou S, Abdullah U, et al. Epilepsy Res. 2024 Mar; 201:107283. Epub 2023 Dec 17.
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience. [Orphanet J Rare Dis. 2022]
Neuronal Ceroid Lipofuscinosis Type 6 (CLN6) clinical findings and molecular diagnosis: Costa Rica's experience.
Badilla-Porras R, Echeverri-McCandless A, Weimer JM, Ulate-Campos A, Soto-Rodríguez A, Gutiérrez-Mata A, Hernández-Con L, Bogantes-Ledezma S, Balmaceda-Meza A, Brudvig J, et al. Orphanet J Rare Dis. 2022 Jan 10; 17(1):13. Epub 2022 Jan 10.
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis. [Clin Chim Acta. 2021]
p.Asn77Lys homozygous CLN6 mutation in two unrelated Japanese patients with Kufs disease, an adult onset neuronal ceroid lipofuscinosis.
Onodera M, Tsujimoto S, Doi S, Yamashita A, Yamazaki T, Makifuchi T, Inazu T. Clin Chim Acta. 2021 Dec; 523:191-195. Epub 2021 Sep 28.

RefSeq genomic sequence
See the genomic reference sequence for the CLN6 gene (NG_008764.2).
RefSeq protein isoforms
See 2 reference sequence protein isoforms for the CLN6 gene.

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serine/threonine-protein kinase PAK 3 isoform X1 [Homo sapiens]
serine/threonine-protein kinase PAK 3 isoform X1 [Homo sapiens]
gi|2462629630|ref|XP_054183121.1|

Protein
Homo sapiens p21 (RAC1) activated kinase 3 (PAK3), transcript variant 8, mRNA
Homo sapiens p21 (RAC1) activated kinase 3 (PAK3), transcript variant 8, mRNA
gi|1676440535|ref|NM_001324325.2|

Nucleotide
CLN6 [Homo sapiens]
CLN6 [Homo sapiens]
gi|48146605|emb|CAG33525.1|

Protein
Narcetes kamoharai[orgn] (0)
Genome
PMC Links for Protein (Select 1084463925) (1)
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