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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOXA1

Variant:p.C258_Y259delFs

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FOXA1

NM_004496.5:p.C258_Y259delFs

hg38:chr14:37592008 TAGCA>T

Associated Papers

A new case of Rafiq syndrome with coexisting thyroid dyshormonogenesis type 6 in a Chinese patient: case report and literature review.

Qi R et al.

Frontiers in Endocrinology, 2025

41393301 (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."