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Long-read sequencing identified intronic repeat expansions in SAMD12 from Chinese pedigrees affected with familial cortical myoclonic tremor with epilepsy.
Zeng S, Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang K, Xia K, Tang BS. Zeng S, et al. Among authors: fang l. J Med Genet. 2019 Apr;56(4):265-270. doi: 10.1136/jmedgenet-2018-105484. Epub 2018 Sep 7. J Med Genet. 2019. PMID: 30194086
LIQA: long-read isoform quantification and analysis.
Hu Y, Fang L, Chen X, Zhong JF, Li M, Wang K. Hu Y, et al. Among authors: fang l. Genome Biol. 2021 Jun 17;22(1):182. doi: 10.1186/s13059-021-02399-8. Genome Biol. 2021. PMID: 34140043 Free PMC article.
8,051 results