Varaico: Literature-Extracted Genetic Variants

Gene:PCSK7
Variant:p.V143F
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PCSK7

NM_004716.4:p.V143F

Associated Papers

Recurrent BMP4 variants in exon 4 cause non-HFE-associated hemochromatosis via the BMP/SMAD signaling pathway.

Ouyang Q et al.

Orphanet Journal of Rare Diseases, 2024

Identification of novel non-HFE mutations in Chinese patients with hereditary hemochromatosis.

Zhang W et al.

Orphanet Journal of Rare Diseases, 2022

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

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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."