Varaico: Literature-Extracted Genetic Variants

Gene:CRELD1
Variant:p.C376_A377delFs
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CRELD1

NM_001077415.3:p.C376_A377delFs

Associated Papers

Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections.

Jeffries L et al.

Genetics in Medicine : Official Journal of the American College of Medical 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."