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Literature summary for 1.14.11.18 extracted from
- The challenges of a successful pregnancy in a patient with adult refsums disease due to phytanoyl-CoA hydroxylase deficiency (2017), JIMD Rep., 33, 49-53 .
Organism
| Organism | UniProt | Comment | Textmining |
|---|---|---|---|
| Homo sapiens | O14832 | - |
- |
Synonyms
| Synonyms | Comment | Organism |
|---|---|---|
| PhyH | - |
Homo sapiens |
General Information
| General Information | Comment | Organism |
|---|---|---|
| malfunction | infantile-onset Adult Refsum's disease due to phytanoyl-CoA hydroxylase ((PHYH) c.164delT, p.L55fsX12) mutation. The challenges of a successful pregnancy in a patient with Adult Refsums disease due to phytanoyl-CoA hydroxylase deficiency | Homo sapiens |
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Release 2023.1 (January 2023)
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