Associated Papers
Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome.
Theis JL et al.
Elife, 2020
TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.
Gomes CC et al.
Nature Communications, 2018
30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
Exome sequencing identifies a rare HSPG2 variant associated with familial idiopathic scoliosis.
Baschal EE et al.
G3 (bethesda, Md.), 2014
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