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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADGRE2

Variant:p.R472_S473Splc

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ADGRE2

NM_013447.4:p.R472_S473Splc

hg38:chr19:14755651 C>G

Associated Papers

High diagnostic yield in skeletal ciliopathies using massively parallel genome sequencing, structural variant screening and RNA analyses.

Hammarsjö A et al.

Journal of Human Genetics, 2021

33875766 (PubMed )

Supplement: 10038_2021_925_MOESM3_ESM.pdf

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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."