Varaico: Literature-Extracted Genetic Variants

Gene:SPEG
Variant:p.W1781*
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SPEG

NM_005876.5:p.W1781*

Associated Papers

Novel SPEG variants in a neonate with severe dilated cardiomyopathy and relatively mild hypotonia.

Fujimoto HM et al.

Human Genome Variation, 2023

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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."