PMID-sentid	Pub_year	Sent_text		comp_official_name	comp_offsetprotein_name	organism	prot_offset
28433712-0	2017	Common PHOX2B poly-alanine contractions impair RET gene transcription, predisposing to Hirschsprung disease.	polyalanine	14-26	paired like homeobox 2B	Homo sapiens	7-13	
28433712-2	2017	Congenital Central Hypoventilation Syndrome (CCHS) is a rare neurocristopathy characterized by impaired response to hypercapnia and hypoxemia caused by heterozygous mutations of the PHOX2B gene, mostly polyalanine (polyA) expansions but also missense, nonsense, and frameshift mutations, while polyA contractions are common in the population and believed neutral.	polyalanine	202-213	paired like homeobox 2B	Homo sapiens	182-188	
28433712-5	2017	Following the observation of HSCR patients carrying in frame trinucleotide deletions within the polyalanine stretch in exon 3 (polyA contractions), we have verified the hypothesis that these PHOX2B variants do reduce its transcriptional activity, likely resulting in a down-regulation of RET expression and, consequently, favouring the development of the HSCR phenotype.	polyalanine	96-107	paired like homeobox 2B	Homo sapiens	191-197