Article

<i>In Silico</i> analysis of the structural and functional impact of deleterious nsSNPs in the human <i>RETREG1</i> gene associated with congenital sensory neuropathy type II

2026-01-02

Abstract excerpt

<h4>Background</h4> Mutations in the RETREG1 gene are known to cause Hereditary Sensory and Autonomic Neuropathy type II (HSAN II), a severe congenital disorder affecting sensory neurons. However, the full spectrum of pathogenic single nucleotide polymorphisms (SNPs) and their specific structural consequences remain incompletely characterized. <h4>Objectives</h4> This study aimed to elucidate pathogenic nsSNPs...

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Literature Corpus work: 4070c6d1-58f7-5bd7-9192-ca86ef043178
DOI: 10.64898/2026.01.02.697353

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