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Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing.
Am J Hum Genet. 2023 Feb 2;110(2):240-250. doi: 10.1016/j.ajhg.2023.01.001. Epub 2023 Jan 19.
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Spinal muscular atrophy.
Nat Rev Dis Primers. 2022 Aug 4;8(1):52. doi: 10.1038/s41572-022-00380-8.
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Generation of two heterozygous MYBPC3 mutation-carrying human iPSC lines, SCVIi001-A and SCVIi002-A, for modeling hypertrophic cardiomyopathy.
Stem Cell Res. 2021 May;53:102279. doi: 10.1016/j.scr.2021.102279. Epub 2021 Mar 11.
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Spinal Muscular Atrophy: In the Challenge Lies a Solution.
Trends Neurosci. 2021 Apr;44(4):306-322. doi: 10.1016/j.tins.2020.11.009. Epub 2021 Jan 7.
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Clinical trial in a dish using iPSCs shows lovastatin improves endothelial dysfunction and cellular cross-talk in LMNA cardiomyopathy.
Sci Transl Med. 2020 Jul 29;12(554). doi: 10.1126/scitranslmed.aax9276.
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A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.
Hum Mol Genet. 1999 Jul;8(7):1177-83. doi: 10.1093/hmg/8.7.1177.
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A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy.
Proc Natl Acad Sci U S A. 1999 May 25;96(11):6307-11. doi: 10.1073/pnas.96.11.6307.
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