https://www.selleckchem.com/pr....oducts/Lapatinib-Dit
In another mild clinical case with the NM_001031726.3c.204_214del (p.(Gly69Argfs*1) variant in a heterozygous state, a marked allelic disbalance was observed on the RNA level with reduced expression level of the wild-type allele. Thus, this case became the first one of a possible regulatory variant causing MPAN. We reported a detailed clinical and molecular characterization of the third-largest MPAN cohort. We expanded the mutational and clinical spectrum of MPAN. Moreover, we calculated the estimated MPAN frequency in th
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