PHARC syndromePHARCamlexanoxataluren/PTC124TRIDs
…D12 gene represent almost one third of the reported variants in PHARC syndrome. ABHD12 protein is responsible for the breakdown of lyso-phosph…
1articles mentioning diseases
2disease mentions
1distinct diseases extracted
0%of mentions human-reviewed
Active filtersEntity: PHARC ×
PHARC
This disease is selected. Its supporting articles are shown below.