Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.
Circulation. Genomic and precision medicine（2023）
关键词
alpk3 protein, human, chromosome deletion, dilated cardiomyopathy, hypertrophic cardiomyopathy, loss of function mutation, musculoskeletal diseases
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