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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CATSPERT

Variant:p.S425*

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CATSPERT

NM_001168221.2:p.S425*

hg38:chr2:201536253 G>C

Associated Papers

Improved genomic characterization of a clinically heterogeneous pediatric cohort with WGS vs. WES.

Brashear AM et al.

Scientific Reports, 2025

41152280 (PubMed )

Supplement: 41598_2025_21421_MOESM1_ESM.xlsx › Sheet1

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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."