Pub. Date : 2020 Jan
PMID : 31444792
3 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | The vast majority of PHOX2B mutations in CCHS is represented by expansions of a polyalanine region in exon 3, collectively defined PARMs (PolyAlanine Repeat Mutations), the minority being frameshift, missense and nonsense mutations, defined as NPARMs (Non-PARMs). | polyalanine | paired like homeobox 2B | Homo sapiens |
| 2 | The vast majority of PHOX2B mutations in CCHS is represented by expansions of a polyalanine region in exon 3, collectively defined PARMs (PolyAlanine Repeat Mutations), the minority being frameshift, missense and nonsense mutations, defined as NPARMs (Non-PARMs). | polyalanine | paired like homeobox 2B | Homo sapiens |
| 3 | Indeed, common and hypomorphic PHOX2B variants, including synonymous, polyalanine-contractions, gene deletions may influence the occurrence of either apparent life-threatening event (ALTE), Sudden Infant Death Syndrome (SIDS), neuroblastoma, or isolated HSCR, likely through small effects on PHOX2B expression levels. | polyalanine | paired like homeobox 2B | Homo sapiens |