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Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood (vol 6, 92, 2021)
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood
Phenotypic variability in patients with ADA2 deficiency due to identical homozygous R169Q mutations
The clinical spectrum of missense mutations of the first aspartic acid of cbEGF-like domains in fibrillin-1 including a recessive family