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160 积分 2023-12-18 加入
Novel PKP2 compound heterozygous mutations causing neonatal early-onset arrhythmogenic cardiomyopathy: insights into the synergistic pathogenicity of biallelic inactivation
1小时前
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Antenatal diagnostic dilemma in a pseudodominant pedigree with lamin‐B receptor (LBR)‐related regressive spondylometaphyseal dysplasia
6个月前
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