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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TBL1X

Variant:p.E119_D120Splc

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TBL1X

NM_005647.4:p.E119_D120Splc

hg38:chrX:9684189 G>A

Associated Papers

Further Delineation of Central Congenital Hypothyroidism due to Variants in TBL1X and IRS4.

Lauffer P et al.

Thyroid : Official Journal of the American Thyroid Association, 2023

36860195 (PubMed )

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )

Supplement: Table_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."