Varaico: Literature-Extracted Genetic Variants

Gene:PSAP
Variant:p.Q199*
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PSAP

NM_002778.4:p.Q199*

Associated Papers

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J et al.

Npj Genomic Medicine, 2024

39468051 (PubMed )
Supplement: 41525_2024_434_MOESM2_ESM.xlsx › Report_Outcomes_and_Variants

A Series of 14 Polish Patients with Thrombotic Events and PC Deficiency-Novel c.401-1G>A PROC Gene Splice Site Mutation in a Patient with Aneurysms

Weronska A et al.

Genes, 2022

Familial thrombotic risk based on the genetic background of Protein C Deficiency in a Portuguese Study.

Fidalgo T et al.

European Journal of Haematology, 2015

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