Inheritance of c.628-6G>A GNB5 hypomorphic allele uncovers another challenge in the pathogenic prediction of genomic variants

Por: Pijuan-Marquilles J, Vilanova-Adell A, Casas-Alba D, Campistol-Plana J, Hoenicka J and Palau F

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Publicada: 1 mar 2024 Ahead of Print: 1 nov 2023

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Filiaciones:
Pijuan-Marquilles J:
 Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain

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 Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

Casas-Alba D:
 Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain

 European Reference Network, ITHACA, Barcelona, Spain

Campistol-Plana J:
 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain

 Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain

Hoenicka J:
 Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain

Palau F:
 Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de Recerca Sant Joan de Déu, Barcelona, Spain

 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain

 Department of Genetic Medicine - IPER, Hospital Sant Joan de Déu and University of Barcelona, Barcelona, Spain

 European Reference Network, ITHACA, Barcelona, Spain

Laboratory of Neurogenetics and Molecular Medicine - IPER, Institut de
Recerca Sant Joan de Deu, Barcelona, Spain
Centro de Investigacion Biomedica en Red de Enfermedades Raras
(CIBERER), ISCIII, Barcelona, Spain
Department of Genetic Medicine - IPER, Hospital Sant Joan de Deu and
University of Barcelona, Barcelona, Spain.