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ParSE-seq: a calibrated multiplexed assay to facilitate the clinical classification of putative splice-altering variants.
Nat Commun. 2024 Sep 27;15(1):8320. doi: 10.1038/s41467-024-52474-4.
Nat Commun. 2024.
PMID: 39333091
Free PMC article.
High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Daniel ZA, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM.
Muhammad A, et al. Among authors: calandranis me.
Genome Med. 2024 May 30;16(1):73. doi: 10.1186/s13073-024-01340-5.
Genome Med. 2024.
PMID: 38816749
Free PMC article.
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High-throughput functional mapping of variants in an arrhythmia gene, KCNE1, reveals novel biology.
Muhammad A, Calandranis ME, Li B, Yang T, Blackwell DJ, Harvey ML, Smith JE, Chew AE, Capra JA, Matreyek KA, Fowler DM, Roden DM, Glazer AM.
Muhammad A, et al. Among authors: calandranis me.
bioRxiv [Preprint]. 2023 Apr 29:2023.04.28.538612. doi: 10.1101/2023.04.28.538612.
bioRxiv. 2023.
Update in:
Genome Med. 2024 May 30;16(1):73. doi: 10.1186/s13073-024-01340-5.
PMID: 37162834
Free PMC article.
Updated.
Preprint.
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