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Segregation, immunohistochemical, molecular and functional analyses classify a novel missense variant in fumarate hydratase (FH) as pathogenic.
Genes Chromosomes Cancer. 2024 Feb;63(2):e23221. doi: 10.1002/gcc.23221.
Genes Chromosomes Cancer. 2024.
PMID: 38682608
SMARCA4-associated schwannomatosis.
Chan-Pak-Choon F, Roca C, Chong AS, Nogué C, Dahlum S, Austin R, Mar Fan H, van Spaendonck-Zwarts KY, Lambie NK, Robertson T, Siebert R, Rivera B, Foulkes WD.
Chan-Pak-Choon F, et al.
Acta Neuropathol. 2023 Apr;145(4):505-507. doi: 10.1007/s00401-023-02546-4. Epub 2023 Feb 14.
Acta Neuropathol. 2023.
PMID: 36786840
No abstract available.
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On the Hunt for the Missed Genetic Causes of Multiple Primary Tumors.
Chan-Pak-Choon F, Foulkes WD.
Chan-Pak-Choon F, et al.
Cancer Prev Res (Phila). 2024 May 2;17(5):193-195. doi: 10.1158/1940-6207.CAPR-24-0115.
Cancer Prev Res (Phila). 2024.
PMID: 38693900
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