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Subjects with known karyotypic abnormalities and fragile X mutations were typically excluded.
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This may be particularly important in small populations and diploid organisms, in which mutations are typically recessive (Nanney 1960).
In monogenic diseases, gene mutations are typically curated as either pathogenic or benign.
Other mutations are typically missenses.
Disease-causing ALMS1 mutations are typically nonsense and frameshift mutations.
In addition, pathogenic tRNA mutations are typically heteroplasmic.
Consistent with this, CTF7/Eco1 null mutations are typically lethal.
Mutations are typically grouped into before, in, and after the A β domain [ 40].
TP53 mutations are typically associated with poorly differentiated and anaplastic thyroid carcinoma [ 28].
Homoplasmic mutations are typically associated with a mild biochemical phenotype, and cause organ-specific mitochondrial disease.
LHON mutations are typically homoplasmic; however, not all patients harbouring a pathogenic LHON mtDNA mutation develop visual failure.
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