Varaico: Literature-Extracted Genetic Variants

Gene:ALPL
Variant:p.R168K
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ALPL

NM_000478.6:p.R168K

Associated Papers

A novel deleterious mutation in the COMP gene that causes pseudoachondroplasia.

Luo H et al.

Human Genome Variation, 2016

27330822 (PubMed )
Supplement: hgv20169-s3.pdf
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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."