Homo sapiens Exome. Homo sapiens
收藏NIAID Data Ecosystem2026-03-08 收录
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资源简介：
Whole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin.
创建时间：
2013-12-30
