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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDK5R2

Variant:p.Q320del1

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CDK5R2

NM_003936.5:p.Q320del1

hg38:chr2:218960776 CGCA>C

Associated Papers

Clinical and Molecular Genetic Characteristics of Patients with Hereditary Hypophosphatemia.

Eltan M et al.

The Journal of Clinical Endocrinology and Metabolism, 2025

39700445 (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."