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Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants.
Clin Genet. 2024 Mar;105(3):340-342. doi: 10.1111/cge.14454. Epub 2023 Nov 22.
Clin Genet. 2024.
PMID: 37994112
The p.Glu787Lys variant in the GRIA3 gene causes developmental and epileptic encephalopathy mimicking structural epilepsy in a female patient.
Martinez-Esteve Melnikova A, Pijuan J, Aparicio J, Ramírez A, Altisent-Huguet A, Vilanova-Adell A, Arzimanoglou A, Armstrong J, Palau F, Hoenicka J, San Antonio-Arce V.
Martinez-Esteve Melnikova A, et al. Among authors: vilanova adell a.
Eur J Med Genet. 2022 Mar;65(3):104442. doi: 10.1016/j.ejmg.2022.104442. Epub 2022 Jan 28.
Eur J Med Genet. 2022.
PMID: 35093607
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