RS121918375 PYCR1
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What This Variant Does
"[OMIM:?]
Associated Conditions
Autosomal recessive cutis laxa type 2B
Cutis laxa
Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Abnormality of connective tissue
Autosomal recessive cutis laxa type 2B
Cutis laxa
Autosomal recessive cutis laxa type 2B
PYCR1-related de Barsy syndrome
Abnormality of connective tissue
Other Variants in PYCR1