TY  - JOUR 
AU  - Domínguez‐Carral, Jana
AU  - Ludlam, William Grant
AU  - Junyent Segarra, Mar
AU  - Fornaguera Marti, Montserrat
AU  - Balsells, Sol
AU  - Muchart, Jordi
AU  - Čokolić Petrović, Dunja
AU  - Espinoza, Iván
AU  - Ortigoza‐Escobar, Juan Dario
AU  - Martemyanov, Kirill A.
AU  - Cancho-Candela, Ramon
PY  - 2023
SN  - 0364-5134
UR  - https://uvadoc.uva.es/handle/10324/64650
AB  - Objective: GNAO1-related disorders (OMIM #615473 and #617493), caused by variants in the GNAO1 gene, are char acterized by developmental delay or intellectual disability, hypotonia, movement disorders, and epilepsy. Neither a genotype–phenotype...
LA  - spa
PB  - Wiley
TI  - Severity of GNAO1‐Related Disorder Correlates with Changes in G‐Protein Function
DO  - 10.1002/ana.26758
ER  -