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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
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Structural mapping of GABRB3 variants reveals genotype–phenotype correlations
Journal
Genetics in Medicine
ISSN
1098-3600
Date Issued
2022
Author(s)
Katrine M. Johannesen
Sumaiya Iqbal
Milena Guazzi
Nazanin A. Mohammadi
PEREZ PALMA, EDUARDO ESTEBAN
Facultad de Medicina Clínica Alemana Universidad del Desarrollo
Elise Schaefer
Anne De Saint Martin
Marie Therese Abiwarde
Amy McTague
Roser Pons
Amelie Piton
Manju A. Kurian
Gautam Ambegaonkar
Helen Firth
Alba Sanchis-Juan
Marie Deprez
Katrien Jansen
Liesbeth De Waele
Eva H. Briltra
Nienke E. Verbeek
Marjan van Kempen
Walid Fazeli
Pasquale Striano
Federico Zara
Gerhard Visser
Hilde M.H. Braakman
Martin Haeusler
Miriam Elbracht
Ulvi Vaher
Thomas Smol
Johannes R. Lemke
Konrad Platzer
Joanna Kennedy
Karl Martin Klein
Ping Yee Billie Au
Kimberly Smyth
Julie Kaplan
Morgan Thomas
Malin K. Dewenter
Argirios Dinopoulos
Arthur J. Campbell
Dennis Lal
Damien Lederer
Vivian W.Y. Liao
Philip K. Ahring
Rikke S. Møller
Elena Gardella
Type
Resource Types::text::journal::journal article
DOI
10.1016/j.gim.2021.11.004
URL
https://investigadores.udd.cl/handle/123456789/5104
Project(s)
Genética en Epilepsia: Caracterización de variantes genéticas raras y comunes en pacientes Chilenos con epilepsias y encefalopatías epilépticas del desarrollo
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