Varaico: Literature-Extracted Genetic Variants

Gene:PSPC1
Variant:p.N450S
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PSPC1

NM_001354909.2:p.N450S

Associated Papers

Somatic Mosaicism Patterns Define Clinical-Surgical Subtypes of Focal Cortical Dysplasia Through Cell-Type-Specific Expression.

Bernardino Garcia CA et al.

Medrxiv : the Preprint Server for Health Sciences, 2025

The clinical and molecular landscape of breast cancer in women of African and South Asian ancestry.

Thorn GJ et al.

Nature Communications, 2025

40394000 (PubMed )
Supplement: 41467_2025_59144_MOESM4_ESM.xlsx › Supplementary_Data_7

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.

Castilla-Vallmanya L et al.

International Journal of Molecular Sciences, 2021

33557041 (PubMed )
Supplement: ijms-22-01549-s001.zip › Suppl_Files › Suppl_Table2_Patient_2_Variants.xlsx › Hoja1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."