Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.E1200fs
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IGSF1

NM_001555.5:p.E1200fs

Associated Papers

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

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.

Fang Q et al.

Endocrine Reviews, 2016

A novel mutation of IGSF1 in a Japanese patient of congenital central hypothyroidism without macroorchidism.

Tajima T et al.

Endocrine Journal, 2013

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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."