P480: A novel MRTFB missense variant, c.479T>C p.(Leu160Pro), in a school-aged girl with neurodevelopmental disorder
2025 · Genetics in Medicine Open · 0 citations
https://doi.org/10.1016/j.gimo.2025.103347
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Helena Kääriäinen is an academic researcher from Finnish Institute for Health and Welfare. The author has contributed to research in topics: BRCA gene mutations in cancer & Genomics and Rare Diseases & Nutrition, Genetics, and Disease. The author has an h-index of 42, co-authored 111 publications.
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