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Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I.
Genes Chromosomes Cancer. 2022 Jan;61(1):10-21. doi: 10.1002/gcc.22997. Epub 2021 Sep 3.
Genes Chromosomes Cancer. 2022.
PMID: 34427956
Free PMC article.
MED12 Mutation in Two Families with X-Linked Ohdo Syndrome.
Rocchetti L, Evangelista E, De Falco L, Savarese G, Savarese P, Ruggiero R, D'Amore L, Sensi A, Fico A.
Rocchetti L, et al.
Genes (Basel). 2021 Aug 27;12(9):1328. doi: 10.3390/genes12091328.
Genes (Basel). 2021.
PMID: 34573309
Free PMC article.
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