Associated Papers
GTPBP2 in-frame deletion in canine model with non-syndromic progressive retinal atrophy.
Murgiano L et al.
Scientific Reports, 2025
Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome.
Salpietro V et al.
American Journal of Human Genetics, 2024
Clinical delineation of GTPBP2-associated neuro-ectodermal syndrome: Report of two new families and review of the literature.
Carter MT et al.
Clinical Genetics, 2019
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.
Bertoli-Avella AM et al.
European Journal of Human Genetics : Ejhg, 2018
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