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Nearly all mutations were previously associated with the gain-of-function phenotype and increased RAS/ERK downstream signaling (Fig. 1a and Table S3).
Mutations were previously observed in PSEN1 in a patient with posterior cortical atrophy and myopia29 and we identified methylation on this gene in the present study.
To examine the underlying factors leading to infertility in a male patient from whom phospholipase C zeta H398P (PLCζhistidinestidine > proline) and PLCζH233L (histidine > leucine) mutations were previously identified.
cDNA expression vectors for hAR harboring the AIS related mutations were previously generated [11].
Class 1 and 2 daf-2 mutations were previously defined by their phenotypic severity [7].
These mutations were previously shown to abolish the binding between Ste11 and Ste50 SAM domains in vitro [17].
Similar(19)
The apparent overrepresentation of tRNA and nonsynonymous mutations among recurrent mutations was previously observed [52] for the worldwide mtDNA phylogeny (Table 2).
This mutations was previously reported in a study of Japanese adults [ 24], and.
Thirty-one families had mutations in KRT6A and of the 18 different mutations, four, including a nonsense mutation, were previously unreported.
Y105E, a phosphorylation-mimic mutation, was previously reported to inhibit PKM2 activity.
The single recessive z3 mutation was previously mapped onto the classical genetic map of the short arm of chromosome 3 (Iwata et al. 1979).
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