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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TMLHE

Variant:p.Q54insFs

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TMLHE

NM_018196.4:p.Q54insFs

hg38:chrX:155545115 C>CT

Associated Papers

The Clinical and Molecular Spectrum of Patients With X-Linked Intellectual Disability and Novel Variations in Different Genes.

Gürsoy S et al.

Pediatric Neurology, 2025

39951932 (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."