Varaico: Literature-Extracted Genetic Variants

Gene:RFC4
Variant:p.D340insFs
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RFC4

NM_002916.5:p.D340insFs

Associated Papers

Biallelic variants in the RFC4 gene cause a rapidly progressive congenital myopathy with severe hypotonia and axial weakness.

Lauerova B et al.

Neuromuscular Disorders : Nmd, 2025

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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."