Varaico: Literature-Extracted Genetic Variants

Gene:R3HCC1L
Variant:p.E449insFs
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R3HCC1L

NM_001351015.2:p.E449insFs

Associated Papers

Gene encoding a new RING-B-box-Coiled-coil protein is mutated in mulibrey nanism.

Avela K et al.

Nature Genetics, 2000

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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."