2lvc
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Solution NMR Structure of Ig like domain (805-892) of Obscurin-like protein 1 from Homo sapiens, Northeast Structural Genomics Consortium (NESG) Target HR8578K
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Structural highlights
DiseaseOBSL1_HUMAN Defects in OBSL1 are the cause of 3M syndrome type 2 (3M2) [MIM:612921. An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.[1] FunctionSee AlsoReferences
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This page was last modified 05:53, 15 May 2024.