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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP120

Variant:p.R973*

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CEP120

NM_001375405.1:p.R973*

hg38:chr5:123346563 G>A

Associated Papers

Genome sequencing in a cohort of 32 fetuses with genetic skeletal disorders.

Lindelöf H et al.

European Journal of Human Genetics : Ejhg, 2025

40500351 (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."