Homo sapiens partial IGKV gene for immunoglobulin kappa chain variable - Nucleotide

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A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness. [Brain. 2022]
A novel MLIP truncating variant in an 80-year-old patient with late-onset progressive weakness.
Bermejo-Guerrero L, Arteche-López A, de Fuenmayor Fernández de la Hoz C, Hernández-Laín A, Martín MA, Domínguez-González C. Brain. 2022 Oct 21; 145(10):e99-e102.
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing. [NPJ Genom Med. 2022]
Novel homozygous nonsense mutation of MLIP and compensatory alternative splicing.
Mezreani J, Audet S, Martin F, Charbonneau J, Triassi V, Bareke E, Laplante A, Karamchandani J, Massie R, Chalk CH, et al. NPJ Genom Med. 2022 Jun 7; 7(1):36. Epub 2022 Jun 7.
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia. [Eur J Neurol. 2022]
Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.
Salzer-Sheelo L, Fellner A, Orenstein N, Bazak L, Lev-El Halabi N, Daue M, Smirin-Yosef P, Van Hout CV, Fellig Y, Ruhrman-Shahar N, et al. Eur J Neurol. 2022 Apr; 29(4):1174-1180. Epub 2022 Jan 7.

RefSeq alternative splicing
See 37 reference mRNA sequence splice variants for the MLIP gene.

IMGT, the international ImMunoGeneTics information system [IMGT, the international ImMun...]
IMGT, the international ImMunoGeneTics information system
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Homo sapiens partial IGKV gene for immunoglobulin kappa chain variable region, c...
Homo sapiens partial IGKV gene for immunoglobulin kappa chain variable region, clone 38
gi|12655549|emb|AJ408433.1|

Nucleotide
Homologene neighbors for GEO Profiles (Select 85774108) (0)
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Profile neighbors for GEO Profiles (Select 85768287) (200)
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Chromosome neighbors for GEO Profiles (Select 121729082) (20)
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Nucleotide