Varaico: Literature-Extracted Genetic Variants

Gene:IGSF1
Variant:p.L1187L
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IGSF1

NM_001555.5:p.L1187L

Associated Papers

A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care

Kardelen AD et al.

Journal of Clinical Research in Pediatric Endocrinology, 2023

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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."