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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:THRA

Variant:p.D268N

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THRA

NM_199334.5:p.D268N

hg38:chr17:40088320 G>A

Associated Papers

Dual Diagnosis of Nongoitrous Congenital Hypothyroidism-6 and Snijders Blok-Campeau Syndrome.

Yalçın HY et al.

Molecular Syndromology, 2024

38841327 (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."