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Contiguous Gene Deletion of Chromosome 15q25.2q25.3 in Biallelic ALPK3 -Related Cardiomyopathy: Novel Insights Into Phenotypic Presentation and Variant Spectrum.

Laura Agnes GruttersJolien S Klein Wassink-RuiterTrijnie DijkhuizenHessel P NijenhuisJan D H JongbloedJohanna C Herkert
Published in: Circulation. Genomic and precision medicine (2023)
Keyphrases
  • copy number
  • heart failure
  • genome wide
  • intellectual disability
  • case report
  • dna methylation
  • gene expression
  • atrial fibrillation