PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 31444792-2 2020 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 80-91 paired like homeobox 2B Homo sapiens 21-27 31444792-2 2020 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 138-149 paired like homeobox 2B Homo sapiens 21-27 31444792-5 2020 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 70-81 paired like homeobox 2B Homo sapiens 31-37