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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CDT1

Variant:p.R63T

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CDT1

NM_030928.4:p.R63T

hg38:chr16:88804019 G>C

Associated Papers

The impact of monoallelic inactivation mutations in the ENPP1 gene on pediatric skeletal development: a case report and literature review.

Lu S et al.

Frontiers in Endocrinology, 2025

40270714 (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."