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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FOCAD

Variant:p.E1744E

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FOCAD

NM_001375567.1:p.E1744E

hg38:chr9:20990350 G>A

Associated Papers

Congenital goitrous hypothyroidism is caused by dysfunction of the iodide transporter SLC26A7.

Ishii J et al.

Communications Biology, 2019

31372509 (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."