Varaico: Literature-Extracted Genetic Variants

Gene:ACAN
Variant:p.Q291*
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ACAN

NM_001369268.1:p.Q291*

Associated Papers

Short stature associated with a novel mutation in the aggrecan gene: A case report and literature review.

Yin LP et al.

World Journal of Clinical Cases, 2022

Novel pathogenic ACAN variants in non-syndromic short stature patients.

Hu X et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 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."