TY  - JOUR
AU  - Torices, Leire
AU  - Mingo, Janire
AU  - Rodríguez Escudero, María Isabel
AU  - Fernández-Acero Bascones, Teresa
AU  - Luna, Sandra
AU  - Nunes-Xavier, Caroline E.
AU  - López, José I.
AU  - Mercadillo, Fátima
AU  - Currás, María
AU  - Urioste, Miguel
AU  - Molina Martín, María
AU  - Jiménez Cid, Víctor
AU  - Pulido, Rafael
PY  - 2023
DO  - 10.1038/s41431-022-01265-w
SN  - 1018-4813
UR  - https://hdl.handle.net/20.500.14352/92258
T2  - Eur J Hum Genet.
AB  - Heterozygous germline mutations in PTEN gene predispose to hamartomas and tumors in different tissues, as well as to neurodevelopmental disorders, and define at genetic level the PTEN Hamartoma Tumor Syndrome (PHTS). The major physiologic role of PTEN...
LA  - eng
M2  - 568
KW  - PTEN
KW  - PHTS
KW  - Yeast
TI  - Functional analysis of PTEN variants of unknown significance from PHTS patients unveils complex patterns of PTEN biological activity in disease
TY  - journal article
VL  - 31
ER  -