Associated Papers
Whole-exome sequencing identifies germline mutation in TP53 and ATRX in a child with genomically aberrant AT/RT and her mother with anaplastic astrocytoma.
Nordfors K et al.
Cold Spring Harbor Molecular Case Studies, 2018
29602769 (PubMed )
Supplement: supp_mcs.a002246_Supplemental_Table_1.xlsx › Only_in_child
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Dubourg C et al.
Human Mutation, 2016
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