Varaico: Literature-Extracted Genetic Variants

Gene:P4HA1
Variant:p.R362fs
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P4HA1

NM_001017962.3:p.R362fs

Associated Papers

P4HA1 mutations cause a unique congenital disorder of connective tissue involving tendon, bone, muscle and the eye.

Zou Y et al.

Human Molecular Genetics, 2017

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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."