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Raevaara TE, et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1.
Interestingly, all the cases with a polycythemia vera-like morphology displayed a discrepant clinical phenotype.
Similar differences of the clinical phenotype at presentation between the two groups were reported.
Inherited erythromelalgia due to mutations in SCN9A: natural history, clinical phenotype and somatosensory profile.
Whole exome sequencing showed three mutations in genes potentially involved in his clinical phenotype.
Because of the clinical phenotype he underwent genetic sequencing of the SCN1A gene at 12 months of age.
This is consistent with the clinical phenotype of functional cobalamin deficiency in vivo.
Genotypic detection of such variants allows to predict their clinical phenotype.
To compare the clinical phenotype and detailed electroretinographic parameters in X-linked retinoschisis (XLRS).
We examined the relationship between environmental and occupational exposures, and the clinical phenotype of sarcoidosis.
There are several proposed mechanisms which may produce the clinical phenotype of ALS.
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