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相关疾病基因组信息、数据库及诊断试验室
http：//genome.ucsc.edu/
http：//www.acmg.net/
http：//www.aphl.org/
http：//www.cdc.gov/
http：//www.hgmd.cf.ac.uk/ac/index.php
http：//www.ncbi.nlm.nih.gov/books/NBK1116/
http：//www.ncbi.nlm.nih.gov/clinvar/
http：//www.ncbi.nlm.nih.gov/gtr/
http：//www.ncbi.nlm.nih.gov/omim
http：//www.raredisease.org.uk/
https：//www.genetests.org/
http：//www.orpha.net/consor/cgi-bin/index.php