Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathy
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11,754 例罕见疾病亲子三人组的基因组测序数据的拷贝数分析：识别常染色体隐性人类基因敲除的模型，包括常染色体隐性视网膜病的新基因
DOI：
10.1016/j.gimo.2024.101834
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发表时间：
2024
期刊：
影响因子：
--
通讯作者：
Olinger E
中科院分区：
文献类型：
--
作者：
Olinger E
