Varaico: Literature-Extracted Genetic Variants

Gene:RFC4
Variant:p.V355delFs
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RFC4

NM_002916.5:p.V355delFs

Associated Papers

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Morimoto M et al.

American Journal of Human Genetics, 2024

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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."