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Year | Number of Results |
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2022 | 1 |
2023 | 1 |
2025 | 1 |
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Novel Missense Variants in PAX8 and NKX2-1 Cause Congenital Hypothyroidism.
Int J Mol Sci. 2023 Jan 2;24(1):786. doi: 10.3390/ijms24010786.
Int J Mol Sci. 2023.
PMID: 36614229
Free PMC article.
WDR73 Depletion Destabilizes PIP4K2C Activity and Impairs Focal Adhesion Formation in Galloway-Mowat Syndrome.
Li H, Liu F, Kuang H, Teng H, Chen S, Zeng S, Zhou Q, Li Z, Liang D, Li Z, Wu L.
Li H, et al.
Biology (Basel). 2022 Sep 25;11(10):1397. doi: 10.3390/biology11101397.
Biology (Basel). 2022.
PMID: 36290302
Free PMC article.
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Oligogenic effect is associated with the clinical heterogeneity of autosomal dominant deafness-15.
Pan J, Teng H, Liu F, Chen S, Liu Y, Teng Y, Liang D, Li Z, Wu L.
Pan J, et al.
Sci Rep. 2025 Jan 15;15(1):1981. doi: 10.1038/s41598-025-85881-8.
Sci Rep. 2025.
PMID: 39809934
Free PMC article.
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