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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:NPRL3

Variant:p.R300del1

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NPRL3

NM_001243247.2:p.R300del1

hg38:chr16:92621 TTCC>T

Associated Papers

Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

Dainelli A et al.

Epilepsia Open, 2023

37491868 (PubMed )

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