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2018 2
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2021 1
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Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.
Succinate Anaplerosis Has an Onco-Driving Potential in Prostate Cancer Cells.
Sant'Anna-Silva ACB, Perez-Valencia JA, Sciacovelli M, Lalou C, Sarlak S, Tronci L, Nikitopoulou E, Meszaros AT, Frezza C, Rossignol R, Gnaiger E, Klocker H. Sant'Anna-Silva ACB, et al. Among authors: perez valencia ja. Cancers (Basel). 2021 Apr 6;13(7):1727. doi: 10.3390/cancers13071727. Cancers (Basel). 2021. PMID: 33917317 Free PMC article.