Discovery of a Novel Likely Pathogenic Splice Site Variant of PACS1 in a Patient with Craniofacial Deformity, Developmental Delay, and Drug-Resistant Epilepsy (P11-9.003)
Year: 2025
Type: article
Source: Neurology
Authors: Dorris Luong, Ning Zhong
Institution: Kaiser Permanente Sacramento Medical Center
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W4409228151
