@article{kim:hal-02888592,
TITLE = {Synonymous variants in holoprosencephaly alter codon usage and impact the Sonic Hedgehog protein},
AUTHOR = {Kim, Artem and Le Douce, J{\'e}r{\^o}me and Diab, Farah and Ferovova, Monika and Dubourg, Christ{\`e}le and Odent, Sylvie and Dup{\'e},
Val{\'e}rie and David, V{\'e}ronique and Diambra, Luis and Watrin, Erwan and de Tayrac, Marie},
URL = {https://hal.science/hal-02888592},
JOURNAL = {Brain - A Journal of Neurology },
PUBLISHER = {Oxford University Press},
VOLUME = {143},
NUMBER = {7},
PAGES = {2027-2038},
YEAR = {2020},
MONTH = Jul, DOI = {10.1093/brain/awaa152},
KEYWORDS = {brain development ; clinical practice ; codon usage ; genetics ; synonymous variants},
HAL_ID = {hal-02888592},
HAL_VERSION = {v1},
}