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Article

A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.

The journal of gene medicine - 1 Jul 2023

Sarma Asodu Sandeep, Siddardha Bathula, T Pragna Lakshmi, Ranganath Prajnya, Dalal Ashwin

Abstract excerpt

BACKGROUND: Hereditary spastic paraplegia 81 is a recently identified, rare autosomal recessive disease, caused by biallelic pathogenic variants in the SELENOI gene, with only two families reported to date. The features documented in the two previous affected families include sensorineural deafness, blindness, cleft palate, delayed motor development, regression of motor skills, impaired intellectual development,...

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Identifiers

PMID: 36942482
DOI: 10.1002/jgm.3501

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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