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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-HuEt anomaly by Quentin Thomas & Marialetizia Motta & Thierry Gautier & Maha S. Zaki & Andrea Ciolfi & Julien Paccaud & François Girodon & Odile Boespflug-Tanguy & Thomas Besnard & Jennifer Kerkhof & Haley McConkey & Aymeric Masson & Anne-Sophie Denommé-Pichon &... is a book available to read on EtoBox.

Author
Quentin Thomas & Marialetizia Motta & Thierry Gautier & Maha S. Zaki & Andrea Ciolfi & Julien Paccaud & François Girodon & Odile Boespflug-Tanguy & Thomas Besnard & Jennifer Kerkhof & Haley McConkey & Aymeric Masson & Anne-Sophie Denommé-Pichon &...
Publisher
The Authors
Published
2022
Language
EN

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