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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TSHB

Variant:p.Y97C

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TSHB

NM_000549.5:p.Y97C

hg38:chr1:115034100 A>G

Associated Papers

Mild Isolated Congenital Central Hypothyroidism Due to a Novel Homozygous Variant in TSHB: A Case Report.

Lauffer P et al.

Thyroid : Official Journal of the American Thyroid Association, 2022

35102753 (PubMed )

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