Varaico: Literature-Extracted Genetic Variants

Gene:COL4A1
Variant:p.G513D
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COL4A1

NM_001845.6:p.G513D

Associated Papers

Clinical characteristics of muscle cramps in hereditary angiopathy with nephropathy, aneurysms, and muscle cramps syndrome associated with a novel COL4A1 pathogenic variant: A family case study.

Haga S et al.

Brain & Development, 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."