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Tag:
whole exome sequencing
March 31, 2025
Escobar Syndrome: A Case Report of a Neonate with a Homozygous CHRNG Pathogenic Variant (c.459dup, p.Val154Serfs*24) Diagnosed Prenatally via Whole Exome Sequencing
December 31, 2023
Genetics Corner: A New Case of Rubinstein-Taybi Syndrome with a Novel Variant in the CREBBP Gene Detected through Whole Exome Sequencing
December 31, 2020
Ethics in Whole Genome Sequencing
