PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 27485184-0 2016 Significant phenotype variability of congenital central hypoventilation syndrome in a family with polyalanine expansion mutation of the PHOX2B gene. polyalanine 98-109 paired like homeobox 2B Homo sapiens 136-142 27485184-6 2016 Molecular genetic evaluation of PHOX2B gene was performed and casual polyalanine repeat expansion mutation c.741_755dup15 in exon 3 was found both in proband and her father in heterozygous form. polyalanine 69-80 paired like homeobox 2B Homo sapiens 32-38