Varaico: Literature-Extracted Genetic Variants

Gene:AMACR
Variant:p.T290_D291insFs
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AMACR

NM_014324.6:p.T290_D291insFs

Associated Papers

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

Abdelhak S et al.

Human Molecular Genetics, 1997

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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."