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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ETV6

Variant:p.E145insFs

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ETV6

NM_001987.5:p.E145insFs

hg38:chr12:11853529 C>CG

Associated Papers

Ataxia Telangiectasia: Myriad of Clinical Presentations.

Mehta R et al.

Indian Journal of Pediatrics, 2024

39395142 (PubMed )

Ataxia telangiectasia.

Datta V et al.

Indian Pediatrics, 1999

10745377 (PubMed )

Ataxia telangiectasia.

Dogra KN et al.

Indian Pediatrics, 1967

5589487 (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."