Varaico: Literature-Extracted Genetic Variants

Gene:PRDM5
Variant:p.R346*
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PRDM5

NM_018699.4:p.R346*

Associated Papers

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders.

Grelet M et al.

Orphanet Journal of Rare Diseases, 2019

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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."