Varaico: Literature-Extracted Genetic Variants

Gene:PCSK1N
Variant:p.A122D
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PCSK1N

NM_013271.5:p.A122D

Associated Papers

Mutational analysis of the HGO gene in Finnish alkaptonuria patients.

Beltrán-Valero de Bernabé D et al.

Journal of Medical Genetics, 1999

Analysis of alkaptonuria (AKU) mutations and polymorphisms reveals that the CCC sequence motif is a mutational hot spot in the homogentisate 1,2 dioxygenase gene (HGO).

Beltrán-Valero de Bernabé D et al.

American Journal of Human Genetics, 1999

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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."