遇见数据集

Overview of 9 disorders tested with their corresponding chromosome number, the mutation, the effect, the inheritance, the breeds where the mutation has been reported before and the animal model.

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Figshare2015-12-02 更新2026-04-29 收录
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CFA = chromosome number; AR = autosomal recessive, XR = X-linked recessive, MP = multifactorial; MS = missense, SP = splice variant, FS = frame shift, ES = exon skipping, SINE = short interspersed element, SNP = single nucleotide polymorphism; 1 leading to premature termination, 2 reduced penetrance.

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2015-12-02
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