Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.Y1137*
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IGSF1

NM_001555.5:p.Y1137*

Associated Papers

The IGSF1 Deficiency Syndrome May Present with Normal Free T4 Levels, Severe Obesity, or Premature Testicular Growth

Ghanny S et al.

Journal of Clinical Research in Pediatric Endocrinology, 2021

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

DIAGNOSIS OF ENDOCRINE DISEASE: Congenital hypothyroidism: update and perspectives

Peters C et al.

European Journal of Endocrinology, 2018

From Consternation to Revelation: Discovery of a Role for IGSF1 in Pituitary Control of Thyroid Function.

Bernard DJ et al.

Journal of the Endocrine Society, 2018

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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."