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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IL17RD

Variant:p.R228C

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IL17RD

NM_017563.5:p.R228C

hg38:chr3:57105922 G>A

Associated Papers

Heterozygous variants in SPTBN1 cause intellectual disability and autism.

Rosenfeld JA et al.

American Journal of Medical Genetics. Part A, 2021

33847457 (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."