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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TONSL

Variant:p.E690K

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TONSL

NM_013432.5:p.E690K

hg38:chr8:144436365 C>T

Associated Papers

Expanding the phenotypic and genotypic characteristics of trichohepatoenteric syndrome: a report of eight patients from five unrelated families.

Ozturk M et al.

Molecular Biology Reports, 2024

38874671 (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."