1
Co-segregation of the mutation with the variable phenotype was confirmed within the proband's family.
2
The disease presents with a variable phenotype that complicates the diagnostic process and treatment.
3
This syndrome has a variable phenotype and affects multiple systems, making early recognition imperative.
4
Clinical evaluation of these families showed a variable phenotype associated with the double-mutation carrier status.
5
The peculiar clinical presentation expands the variable phenotype observed in adPEO and Twinkle gene mutations.
6
This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC.
7
Interstitial 6q deletions can cause a variable phenotype depending on the size and location of the deletion.
8
This diagnosis may be associated with a highly variable phenotype that may occasionally be compatible with extrauterine life.
9
Preliminary genotype-phenotype correlation indicates a profound phenotype in p.Arg87 substitutions and a more variable phenotype in other alterations.
10
The disorder is associated with the homozygous C282Y mutation and has variable phenotype, being modulated by environmental and genetic factors.
11
Caution should be taken in selecting GSD type IV candidates for liver transplantation because of the variable phenotype, which may include life-limiting extrahepatic manifestations.
12
Variations in a given gene can present with variable phenotypes, too.
13
Glioblastomas display variable phenotypes that include increased drug-resistance associated with enhanced migratory and anti-apoptotic characteristics.
14
In sum, this study defines an approach for decoding spatially variable phenotypes generated during CRISPR-based screens.
15
Genetic mosaicism can manifest as spatially variable phenotypes that vary from site to site within an organism.
16
Genetics of most psychiatric disorders are extremely complex due to multiple susceptibility variants with low penetrance and variable phenotypes.
