Varaico: Literature-Extracted Genetic Variants

Gene:IGSF10
Variant:p.E161K
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IGSF10

NM_178822.5:p.E161K

Associated Papers

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

Jayabal P et al.

Cell Reports, 2025

Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.

Bhattarai P et al.

Acta Neuropathologica, 2024

38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_2

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

A systematic review and standardized clinical validity assessment of male infertility genes.

Oud MS et al.

Human Reproduction (oxford, England), 2019

30865283 (PubMed )
Supplement: dez022_supplementary_tables_siii_-_svi_final.xlsx › Supplementary_Table_SVI

Congenital hypogonadotropic hypogonadism and constitutional delay of growth and puberty have distinct genetic architectures.

Cassatella D et al.

European Journal of Endocrinology, 2018

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

Howard SR et al.

Embo Molecular Medicine, 2016

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1861.653
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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."