Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.P863R
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IGSF1

NM_001555.5:p.P863R

Associated Papers

Diagnosis and Management of Central Congenital Hypothyroidism.

Lauffer P et al.

Frontiers in Endocrinology, 2021

34566885 (PubMed )
Supplement: Table_1.docx

A Novel IGSF1 Mutation in a Boy With Short Stature and Hypercholesterolemia: A Case Report.

Heinen CA et al.

Journal of the Endocrine Society, 2017

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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."