TY  - GEN 
AU  - Heredia Torrejon, María
AU  - Montañez, R.
AU  - González-Meneses, A.
AU  - Carcavilla, A.
AU  - Medina, M.A.
AU  - Lechuga Sancho, Alfonso María
A4  - Materno-Infantil y Radiología
PY  - 2024
SN  - 1750-1172
UR  - http://hdl.handle.net/10498/35636
AB  - The diagnostic odysseys for rare disease patients are getting shorter as next-generation sequencing becomes more widespread. However, the complex genetic diversity and factors influencing expressivity continue to challenge accurate diagnosis, leaving...
LA  - eng
PB  - BioMed Central Ltd
KW  - Biomolecular condensation
KW  - Genetic variant prioritization
KW  - Intrinsically disordered protein regions
KW  - LLPS
KW  - Molecular diagnosis
KW  - Molecular effects of genetic variations
KW  - Rare diseases
TI  - VUS next in rare diseases? Deciphering genetic determinants of biomolecular condensation
DO  - 10.1186/S13023-024-03307-6
ER  -