TY  - JOUR
AU  - Pricolo, Maria Rosaria
AU  - Herrero-Galan, Elas
AU  - Mazzaccara, Cristina
AU  - Losi, Maria Angela
AU  - Alegre-Cebollada, Jorge
AU  - Frisso, Giulia
PY  - 2020
DO  - 10.1007/s12265-020-09959-6
SN  - 1937-5387
UR  - http://hdl.handle.net/20.500.12105/11235
AB  - In the era of next generation sequencing (NGS), genetic testing for inherited disorders identifies an ever-increasing number of variants whose pathogenicity remains unclear. These variants of uncertain significance (VUS) limit the reach of genetic...
LA  - eng
PB  - Springer
TI  - Protein Thermodynamic Destabilization in the Assessment of Pathogenicity of a Variant of Uncertain Significance in Cardiac Myosin Binding Protein C.
TY  - journal article
ER  -