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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC134

Variant:p.L164L

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CCDC134

NM_024821.5:p.L164L

hg38:chr22:41813445 G>C

Associated Papers

A Novel Homozygous Synonymous Variant in CCDC134 as a Cause of Osteogenesis Imperfecta Type XXII.

Ning H et al.

Clinical Genetics, 2025

39623602 (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."