Varaico: Literature-Extracted Genetic Variants

Gene:PTBP1
Variant:p.P467S
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PTBP1

NM_002819.5:p.P467S

Associated Papers

Age at onset of genetic disease and genetic dependent stage: evidence from cases with SCN1A variants.

Luo S et al.

Brain : a Journal of Neurology, 2025

39969241 (PubMed )
Supplement: awaf064_supplementary_data.pdf
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