RS63750759 ABCC6
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What This Variant Does
"Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum. [OMIM:?]
Associated Conditions
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification
generalized
of infancy
2
Pseudoxanthoma elasticum
forme fruste
Autosomal recessive inherited pseudoxanthoma elasticum
Arterial calcification
generalized
of infancy
2
Pseudoxanthoma elasticum
forme fruste
Other Variants in ABCC6