RS104894276 PTS
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What This Variant Does
"[OMIM:?]
Associated Conditions
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
GTP cyclohydrolase I deficiency with hyperphenylalaninemia
Other Variants in PTS