Associated Papers
Genetic/epigenetic effects in NF1 microdeletion syndrome: beyond the haploinsufficiency, looking at the contribution of not deleted genes.
Tritto V et al.
Human Genetics, 2024
Global Carrier Rates of Rare Inherited Disorders Using Population Exome Sequences.
Fujikura K
Plos One, 2016
27219052 (PubMed )
Supplement: pone.0155552.s003.pdf
RAF1 mutations in childhood-onset dilated cardiomyopathy.
Dhandapany PS et al.
Nature Genetics, 2014
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