Varaico: Literature-Extracted Genetic Variants

Gene:NPRL3
Variant:p.R92*
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NPRL3

NM_001077350.3:p.R92*

Associated Papers

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project.

Lam WKJ et al.

The Lancet Regional Health. Western Pacific, 2025

39944418 (PubMed )
Supplement: mmc1.docx

Multi-disciplinary team approach for pediatric hemimegalencephaly: Insights from a single institutional case series.

Edmonds B et al.

Epilepsia Open, 2024

Phenotypic and genotypic characterization of NPRL3-related epilepsy: Two case reports and literature review.

Yang D et al.

Epilepsia Open, 2024

37902097 (PubMed )
Supplement: EPI4-9-33-s002.xlsx › Sheet1

Clinical phenotypic and genotypic characterization of NPRL3-related epilepsy.

Zhang H et al.

Frontiers in Neurology, 2023

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