RS1057518886 HMBS
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What This Variant Does
"c.400delC (p.Leu134Terfs) appears to be acute intermittent porphyria related but isn't tagged as suc...
Associated Conditions
Fever
Vomiting
Emotional lability
Visual loss
Abdominal pain
Acute intermittent porphyria
Fever
Vomiting
Emotional lability
Visual loss
Abdominal pain
Acute intermittent porphyria
Other Variants in HMBS