Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.W1173delFs
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IGSF1

NM_001170961.2:p.W1173delFs

Associated Papers

Two siblings with congenital central hypothyroidism caused by a novel mutation in the IGSF1 gene.

Oguma M et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 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."