Pub. Date : 2014 Mar
PMID : 23460545
2 Functional Relationships(s)Download |
Sentence | Compound Name | Protein Name | Organism |
| 1 | Recurrence of CCHS associated PHOX2B poly-alanine expansion mutation due to maternal mosaicism. | polyalanine | paired like homeobox 2B | Homo sapiens |
| 2 | Heterozygous in frame trinucleotide duplications within the PHOX2B gene, leading to poly-alanine expansions, cause Congenital Central Hypoventilation Syndrome. | polyalanine | paired like homeobox 2B | Homo sapiens |