Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.N380fs
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IGSF1

NM_001555.5:p.N380fs

Associated Papers

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

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

Fang Q et al.

Endocrine Reviews, 2016

Combined Growth Hormone and Thyroid-Stimulating Hormone Deficiency in a Japanese Patient with a Novel Frameshift Mutation in IGSF1.

Asakura Y et al.

Hormone Research in Paediatrics, 2015

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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."