RS104894274 PTS
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What This Variant Does
"[OMIM:?]
Associated Conditions
Hyperphenylalaninemia
bh4-deficient
a
due to partial pts deficiency
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Hyperphenylalaninemia
bh4-deficient
a
due to partial pts deficiency
6-Pyruvoyl-tetrahydrobiopterin synthase deficiency
Other Variants in PTS