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Showing 1 to 2 of 2 for “"FAM83H"”.
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Investigating FAM83H, a protein mutated in Amelogenesis Imperfecta
FAM83H belongs to the Family with sequence similarity 83 (FAM83) protein family that comprises eight members, FAM83A-FAM83H. This protein family is related by a conserved N-terminal domain of unknown function, DUF1669. Beyond the DUF1669 domain, no other functional domains have been identified …
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Correlación genotipo-fenotipo en familias colombianas con amelogenesis imperfecta
… variantes en tres genes clave: FAM20A, DLX3 y FAM83H, que fueron correlacionadas con el fenotipo encontrado en estas tres familias estudiadas. Los hallazgos clínicos reportados fueron: hipoplasia, hipocalcificación y taurodontismo, los cuales fueron concordantes con lo reportado en la …