hCG16873, isoform CRA_a [Homo sapiens]

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Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients. [Neuromuscul Disord. 2023]
Megaconial congenital muscular dystrophy due to CHKB gene variants, the first report of thirteen Iranian patients.
Zemorshidi F, Nafissi S, Boostani R, Karimiani EG, Ashtiani BH, Karimzadeh P, Miryounesi M, Tonekaboni SH, Nilipour Y. Neuromuscul Disord. 2023 Jul; 33(7):589-595. Epub 2023 Jun 19.
CHKB-Related Muscular Dystrophy. [GeneReviews(®). 1993]
CHKB-Related Muscular Dystrophy.
Chan SHS, Nishino I. GeneReviews(®). 1993-2024. 2023 Mar 30
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene. [Mol Genet Genomic Med. 2023]
Large heterozygous deletion and uniparental disomy masquerading as homozygosity in CHKB gene.
Wu T, Zhang C, He F, Yang L, Yin F, Peng J. Mol Genet Genomic Med. 2023 Jul; 11(7):e2162. Epub 2023 Mar 10.

RefSeq genomic sequence
See the genomic reference sequence for the CHKB gene (NG_029213.1).
RefSeq genomic sequence
See the genomic reference sequence for the CHKB gene (NG_012643.1).
RefSeq protein
See the reference protein sequence for choline/ethanolamine kinase (NP_005189.2).

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