GeneticsBrainPeer-reviewed
Integrated Clinical and Omics Approach to Rare Diseases: Novel Genes and Oligogenic Inheritance in Holoprosencephaly
Artem Kim, Clara Savary, Christèle Dubourg…·Tania Attié‐Bitach
This study identifies novel HPE genes and oligogenic inheritance patterns in holoprosencephaly by integrating clinical data with exome sequencing and gene prioritization.
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