Sentence examples for presentation of a mutation from inspiring English sources

Accordingly, poor presentation of a mutation across patients was correlated with higher frequency among tumors.

The overall neuropsychiatric presentation of this mutation appears to be similar to sporadic disease in regard to typical bvFTD symptoms, but its presentation is heterogeneous and a subset of mutation carriers may be at higher risk of being misdiagnosed with primary psychiatric conditions.

The early presentation of IDH1 mutation and CIMP that we have seen in our study suggests this is an early and important event in gliomagenesis and that if not acquired at an early stage is not gained during progression as no later stage glioblastoma presented with CIMP where the precursor did not.

Even in this limited number of studies, lymphocytes were more often used in monitoring of tissue specific presentation of respective mutations than as a primary diagnostic tool.

As this was a single case, the spectrum of clinicopathological presentation of this novel mutation has yet to be determined.

The chance of a mutation is unknown.

This work extends the phenotypic spectrum associated with LIG4 mutations, establishing that extreme growth retardation with microcephaly is a common presentation of bilallelic truncating mutations.

The clinical presentation of both mutations is not overtly different.

The tissue specific variation in presentation of aaRS mutations is discussed.

This landmark finding strongly suggests that the overlapping phenotypical and clinical presentation of mutations is directly linked to a common cellular function of the affected gene products within the cell.

Further, the main molecular basis of the β-thalassemia intermedia phenotype in Iranian cases was determined to be the coinheritance of a positive Xmn I polymorphism with β-globin mutations resulted in increase Hb F production, coinheritance of α-globin defects, and mild presentation of β-globin mutations [ 59].