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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SLC5A5

Variant:p.G50fs

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SLC5A5

NM_000453.3:p.G50fs

hg38:chr19:17872467 G>GN

Associated Papers

Novel Compound Heterozygous Pathogenic Mutations of SLC5A5 in a Chinese Patient With Congenital Hypothyroidism.

Zhang CX et al.

Frontiers in Endocrinology, 2021

33815280 (PubMed )

Supplement: DataSheet_1.docx

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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."