Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.C750delFs
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IGSF1

NM_001555.5:p.C750delFs

Associated Papers

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.

Sun Y et al.

Nature Genetics, 2012

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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."