RS551450545 RMRP
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What This Variant Does
"A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in ..."
Associated Conditions
Metaphyseal chondrodysplasia
McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
RMRP-related disorder
Metaphyseal chondrodysplasia
McKusick type
Anauxetic dysplasia
Metaphyseal chondrodysplasia
McKusick type
Anauxetic dysplasia
Anauxetic dysplasia 1
Metaphyseal dysplasia without hypotrichosis
RMRP-related disorder
Other Variants in RMRP