Varaico: Literature-Extracted Genetic Variants

Gene:BRF1
Variant:p.C184*
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BRF1

NM_001519.4:p.C184*

Associated Papers

Expanding the phenotype of cerebellar-facial-dental syndrome: Two siblings with a novel variant in BRF1.

Valenzuela I et al.

American Journal of Medical Genetics. Part A, 2020

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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."