Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.Q187*
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ACAN

NM_001369268.1:p.Q187*

Associated Papers

A chondrodysplasia family produced by mutations in the diastrophic dysplasia sulfate transporter gene: genotype/phenotype correlations.

Superti-Furga A et al.

American Journal of Medical Genetics, 1996

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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."