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CNP0000453
视网膜色素变性家系研究
Source: CNGBdb Project (ID CNP0000453)

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Project name: 中国视网膜色素变性家系遗传和临床发现
Description: 通过视网膜色素变性家系研究，阐述中国人群的遗传特点以及基因型频谱，对临床诊断、预防具有极其重要的意义
Data type: Genome sequencing and assembly; Genome sequencing; Exome; Phenotype or Genotype; Targeted loci environmental; Targeted Locus (Loci); Transcriptome or Gene expression; Variation
Sample scope: Multiisolate
Relevance: Medical
Submitter: 李 伟; 华大基因研究院/华大生命科学研究院（BGI Research）
Literatures
  1. PMID: 31054281
  2. PMID: 32855858
Release date: 2020-01-15
Last updated: 2019-04-29
Statistics: 96 samples; 96 experiments; 96 runs
Data size: 234.37GB
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