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2023 | 2 |
2024 | 2 |
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RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing.
J Hum Genet. 2024 Feb;69(2):91-99. doi: 10.1038/s10038-023-01211-8. Epub 2023 Dec 15.
J Hum Genet. 2024.
PMID: 38102195
Novel compound heterozygous ATP1A2 variants in a patient with fetal akinesia/hypokinesia sequence.
Furukawa S, Kato M, Nomura T, Sumitomo N, Yoneno S, Nakashima M, Saitsu H.
Furukawa S, et al.
Am J Med Genet A. 2024 Mar;194(3):e63453. doi: 10.1002/ajmg.a.63453. Epub 2023 Oct 23.
Am J Med Genet A. 2024.
PMID: 37870493
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