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Article

Updated compendium of genes and variants associated with congenital hypogonadotropic hypogonadism: systematic review, classification pipeline, and network analysis.

Human molecular genetics - 23 Feb 2026

Brunello Franco G, Castro Sebastián, Zaiat Jonathan, Sansó Gabriela, Izquierdo Agustín, Urrutia Mariela, Rey Rodolfo A, Martí Marcelo, Grinspon Romina P, Tellechea Mariana L

Abstract excerpt

To advance the understanding of Congenital Hypogonadotropic Hypogonadism (CHH), we aimed to refine the catalog of causal genes and variants. We systematically collected variants reported in the literature and created CHH_vd, a curated database. In parallel, we developed CHH_vip, a custom-built computational pipeline for variant annotation and classification, which integrates data from CHH_vd and external sources....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41758602
DOI: 10.1093/hmg/ddag007

Genes

ANOS1
GNRHR
PLXNA1
SEMA7A

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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