RS121917851 TTPA
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What This Variant Does
"CLNSIG=255
Associated Conditions
ATAXIA
FRIEDREICH-LIKE
WITH ISOLATED VITAMIN E DEFICIENCY
Familial isolated deficiency of vitamin E
Retinal dystrophy
TTPA-related disorder
ATAXIA
FRIEDREICH-LIKE
WITH ISOLATED VITAMIN E DEFICIENCY
Familial isolated deficiency of vitamin E
Retinal dystrophy
TTPA-related disorder
Other Variants in TTPA