Associated Papers
Chiari 1 malformation and exome sequencing in 51 trios: the emerging role of rare missense variants in chromatin-remodeling genes.
Provenzano A et al.
Human Genetics, 2021
Early-onset low-grade papillary carcinoma of the bladder associated with Apert syndrome and a germline FGFR2 mutation (Pro253Arg).
Andreou A et al.
American Journal of Medical Genetics. Part A, 2006
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