Gene selection for the Australian Reproductive Genetic Carrier Screening Project (“Mackenzie’s Mission”)

Reproductive genetic carrier screening aims to offer couples information about their chance of having children with certain autosomal recessive and X-linked genetic conditions. We developed a gene list for use in “Mackenzie’s Mission”, a research project in which 10,000 couples will undergo screenin...

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Detalhes bibliográficos
Publicado no:Eur J Hum Genet
Main Authors: Kirk, Edwin P., Ong, Royston, Boggs, Kirsten, Hardy, Tristan, Righetti, Sarah, Kamien, Ben, Roscioli, Tony, Amor, David J., Bakshi, Madhura, Chung, Clara W. T., Colley, Alison, Jamieson, Robyn V., Liebelt, Jan, Ma, Alan, Pachter, Nicholas, Rajagopalan, Sulekha, Ravine, Anja, Wilson, Meredith, Caruana, Jade, Casella, Rachael, Davis, Mark, Edwards, Samantha, Archibald, Alison, McGaughran, Julie, Newson, Ainsley J., Laing, Nigel G., Delatycki, Martin B.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer International Publishing 2020
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7852568/
https://ncbi.nlm.nih.gov/pubmed/32678339
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-020-0685-x
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