RS72555367 GLB1
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What This Variant Does
"Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infant...
Associated Conditions
Mucopolysaccharidosis
MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis
Spondyloepiphyseal dysplasia
Mucopolysaccharidosis
MPS-IV-B
GM1 gangliosidosis type 3
Infantile GM1 gangliosidosis
GM1 gangliosidosis type 2
GM1 gangliosidosis
Spondyloepiphyseal dysplasia
Other Variants in GLB1