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Year | Number of Results |
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2023 | 2 |
2024 | 2 |
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Two novel cases of biallelic SMPD4 variants with brain structural abnormalities.
Neurogenetics. 2024 Jan;25(1):3-11. doi: 10.1007/s10048-023-00737-5. Epub 2023 Oct 26.
Neurogenetics. 2024.
PMID: 37882972
Review.
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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