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Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
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Titel: |
Loss of Function of RIMS2 Causes a Syndromic Congenital Cone-Rod Synaptic Disease with Neurodevelopmental and Pancreatic Involvement |
Auteur: |
Mechaussier, Sabrina Almoallem, Basamat Zeitz, Christina Van Schil, Kristof Jeddawi, Laila Van Dorpe, Jo Dueñas Rey, Alfredo Condroyer, Christel Pelle, Olivier Polak, Michel Boddaert, Nathalie Bahi-Buisson, Nadia Cavallin, Mara Bacquet, Jean-Louis Mouallem-Bézière, Alexandra Zambrowski, Olivia Sahel, José Alain Audo, Isabelle Kaplan, Josseline Rozet, Jean-Michel De Baere, Elfride Perrault, Isabelle |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 106 () nr. 6 pagina's 859-871 |
Jaar: |
2020 |
Inhoud: |
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Uitgever: |
The Authors |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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