Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.H808fs
Back to variants list

IGSF1

NM_001170961.2:p.H808fs

Associated Papers

Exome sequencing (ES) of a pediatric cohort with chronic endocrine diseases: a single-center study (within the framework of the TRANSLATE-NAMSE project).

Gippert S et al.

Endocrine, 2024

Hepatomegaly and fatty liver disease secondary to central hypothyroidism in combination with macrosomia as initial presentation of IGSF1 deficiency syndrome.

Nikolaou M et al.

Hormones (athens, Greece), 2023

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."