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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EXT1

Variant:p.K177_V178delFs

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EXT1

NM_000127.3:p.K177_V178delFs

hg38:chr8:118110514 ACT>A

Associated Papers

The Clinical and Molecular Spectrum of Trichorhinophalangeal Syndrome Types I and II in a Turkish Cohort Involving 22 Patients.

Güneş N et al.

Turkish Archives of Pediatrics, 2023

36598218 (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."