Varaico: Literature-Extracted Genetic Variants

Gene:PKLR
Variant:p.Y487*
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PKLR

NM_000298.6:p.Y487*

Associated Papers

[Brachydactyly type C due to a nonsense mutation in the GDF5 gene].

Travieso-Suárez L et al.

Anales De Pediatria, 2018

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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."