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A robust pipeline for ranking carrier frequencies of autosomal recessive and X-linked Mendelian disorders
Single gene disorders are individually rare but collectively common leading causes of neonatal and pediatric morbidity and mortality. Both parents or the mothers of affected individuals with autosomal recessive or X-linked recessive diseases, respectively, are carrier(s). Carrier frequencies of rece...
Autores principales: | Zhu, Wenjuan, Wang, Chen, Mullapudi, Nandita, Cao, Yanan, Li, Lin, Lo, Ivan Fai Man, Tsui, Stephen Kwok-Wing, Chen, Xiao, Lei, Yong, Gu, Shen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9763236/ https://www.ncbi.nlm.nih.gov/pubmed/36535936 http://dx.doi.org/10.1038/s41525-022-00344-7 |
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