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1 records shown · first 60Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
PMID 24315819 | DOI 10.1016/j.gene.2013.11.043 · Gene · 2014 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| variant | c.2761C>T | “Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.” | 0.95 | hgvs_regex_v1 |
| gene | ALS2 | “Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.” | 0.98 | hgnc_dict_v1 |
| phenotype | amyotrophic lateral sclerosis | “Recessive mutations in the alsin gene cause three clinically distinct motor neuron diseases: juvenile amyotrophic lateral sclerosis (ALS2), juvenile primary lateral sclerosis (JPLS) and infantile-onset ascending hereditary spastic paraplegia (IAHSP).” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Saudi Arabia | “This study highlights the importance of using homozygosity mapping combined with candidate gene analysis to identify the underlying genetic defect as in this Saudi consanguineous family.” | 0.95 | saudi_context_rules_v1 |