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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC120

Variant:p.R29P

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CCDC120

NM_001163321.4:p.R29P

hg38:chrX:49062257 G>C

Associated Papers

The molecular spectrum of Turkish osteopetrosis and related osteoclast disorders with natural history, including a candidate gene, CCDC120.

Tüysüz B et al.

Bone, 2023

37704070 (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."