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2008 6
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2011 5
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Similar articles for PMID: 36252966

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Page 1
BK Channelopathies and KCNMA1-Linked Disease Models.
Meredith AL. Meredith AL. Annu Rev Physiol. 2024 Feb 12;86:277-300. doi: 10.1146/annurev-physiol-030323-042845. Epub 2023 Oct 31. Annu Rev Physiol. 2024. PMID: 37906945 Free article. Review.
De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes.
Liang L, Li X, Moutton S, Schrier Vergano SA, Cogné B, Saint-Martin A, Hurst ACE, Hu Y, Bodamer O, Thevenon J, Hung CY, Isidor B, Gerard B, Rega A, Nambot S, Lehalle D, Duffourd Y, Thauvin-Robinet C, Faivre L, Bézieau S, Dure LS, Helbling DC, Bick D, Xu C, Chen Q, Mancini GMS, Vitobello A, Wang QK. Liang L, et al. Hum Mol Genet. 2019 Sep 1;28(17):2937-2951. doi: 10.1093/hmg/ddz117. Hum Mol Genet. 2019. PMID: 31152168 Free PMC article.
101 results