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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CCDC142

Variant:p.R554_V556del0

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CCDC142

NM_001365575.2:p.R554_V556del0

hg38:chr2:74475351 AGTACGGTGC>A

Associated Papers

Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics.

Maddirevula S et al.

Genome Biology, 2020

32552793 (PubMed )

Supplement: 13059_2020_2053_MOESM4_ESM.xlsx › Table_S3

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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."