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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https://figshare.com/articles/dataset/_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_/803917
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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.
CFA=染色体数目(chromosome number);AR=常染色体隐性遗传(autosomal recessive)、XR=X连锁隐性遗传(X-linked recessive)、MP=多因素遗传(multifactorial);MS=错义突变(missense)、SP=剪接变异体(splice variant)、FS=移码突变(frame shift)、ES=外显子跳读(exon skipping)、SINE=短散在核元件(short interspersed element)、SNP=单核苷酸多态性(single nucleotide polymorphism);1:导致翻译提前终止;2:外显率降低
创建时间:
2013-09-19



