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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTCH1

Variant:p.F516_L517insFs

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PTCH1

NM_000264.5:p.F516_L517insFs

hg38:chr9:95476813 A>AG

Associated Papers

Two common and three novel PDS mutations in Thai patients with Pendred syndrome.

Snabboon T et al.

Journal of Endocrinological Investigation, 2007

18250610 (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."