@article{fradin:hal-01282329,
TITLE = {Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45},
AUTHOR = {Fradin, M{\'e}lanie and Colin, Estelle and Hannouche-Bared, Daniele and Audo, Isabelle and Sahel, Jos{\'e}-Alain and Biskup, Saskia and Carre, Wilfried and Ziegler, Alban and Wilhelm, Christian and Guichet, Agn{\`e}s and Odent, Sylvie and Bonneau, Dominique},
URL = {https://univ-rennes.hal.science/hal-01282329},
JOURNAL = {Ophthalmic Genetics},
PUBLISHER = {Taylor \& Francis},
VOLUME = {37},
NUMBER = {3},
PAGES = {357-359},
YEAR = {2016},
MONTH = Jul, DOI = {10.3109/13816810.2015.1087578},
KEYWORDS = {homozygosity mapping ; retinitis pigmentosa ; genetic counseling ; nonsense mutation ; CNGB1 gene},
PDF = {https://univ-rennes.hal.science/hal-01282329/file/Run%20of%20homozygosity%20analysis.pdf},
HAL_ID = {hal-01282329},
HAL_VERSION = {v1},
}
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