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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:IRAK1

Variant:p.E243_N244Splc

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IRAK1

NM_001569.4:p.E243_N244Splc

hg38:chrX:154018577 C>T

Associated Papers

Localized mutations in the gene encoding the cytoskeletal protein filamin A cause diverse malformations in humans.

Robertson SP et al.

Nature Genetics, 2003

12612583 (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."