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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CTC1

Variant:p.L935F

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CTC1

NM_025099.6:p.L935F

hg38:chr17:8230424 G>A

Associated Papers

Primary Ciliary Dyskinesia: Ancestral Haplotypes Analysis of the RSPH4A Founder Mutation in Puerto Rico.

De Jesús-Rojas W et al.

Cureus, 2021

34513534 (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."