Varaico: Literature-Extracted Genetic Variants

Gene:IGSF10
Variant:p.R156L
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IGSF10

NM_178822.5:p.R156L

Associated Papers

IGSF10 is a RET antagonist regulating Ewing sarcoma growth and GnRH neuron migration.

Jayabal P et al.

Cell Reports, 2025

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Genetic Evaluation of Patients With Delayed Puberty and Congenital Hypogonadotropic Hypogonadism: Is it Worthy of Consideration?

Festa A et al.

Frontiers in Endocrinology, 2020

SEMA3A and IGSF10 Are Novel Contributors to Combined Pituitary Hormone Deficiency (CPHD).

Budny B et al.

Frontiers in Endocrinology, 2020

IGSF10 mutations dysregulate gonadotropin-releasing hormone neuronal migration resulting in delayed puberty.

Howard SR et al.

Embo Molecular Medicine, 2016

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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."