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)

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Journal
Neurology
Published
2025-04-07
DOI
https://doi.org/10.1212/wnl.0000000000208676
Primary Topic
Genomics and Rare Diseases
Type
article
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article

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)

Ning Zhong, Dorris Luong
Neurology
Genomics and Rare Diseases
article

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)

Ning Zhong, Dorris Luong
article en

Abstract

No abstract available for this paper.
NeurologyVol. 104(7_Supplement_1)
Kaiser Permanente Sacramento Medical Center (US)
Good health and well-being
Openalex Percentile: Top 92%
Genomics and Rare Diseases
DOISourceOpenAlex
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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) — Ning Zhong, Dorris Luong · Neurology (2025) | TGRS Research Map | TGRS