RS121917849 TTPA
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What This Variant Does
"CLNSIG=5
Associated Conditions
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA
Familial isolated deficiency of vitamin E
ATAXIA WITH ISOLATED VITAMIN E DEFICIENCY AND RETINITIS PIGMENTOSA
Familial isolated deficiency of vitamin E
Other Variants in TTPA