Varaico: Literature-Extracted Genetic Variants

Gene:PCSK5
Variant:p.R500C
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PCSK5

NM_001372043.1:p.R500C

Associated Papers

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Chen X et al.

Frontiers in Genetics, 2021

34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1

Candidate single nucleotide polymorphism markers for arsenic responsiveness of protein targets.

Isokpehi RD et al.

Bioinformatics and Biology Insights, 2010

20981267 (PubMed )
Supplement: BBI-4-supplementary.xls › SNPs3D_-_Substitutions_to_Cys
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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."