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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CRELD1

Variant:p.Q320R

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CRELD1

NM_001077415.3:p.Q320R

hg38:chr3:9943426 A>G

Associated Papers

Biallelic CRELD1 variants cause severe muscle weakness and infantile epilepsy.

D'Alessandro M et al.

Brain Communications, 2025

40980404 (PubMed )

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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."