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1 Despite this homogeneous molecular defect, variability in phenotype severity is commonly observed, for example, variable age at loss of ambulation (LoA).
Multiple examples from the world of rare diseases demonstrate that conditions that initially seem to be defined by specific genetic mutations can nevertheless exhibit remarkable variability in phenotype, at both the molecular and the organismic level.
The research team that studied dominant white cited "subtle variations in the amount of residual KIT protein" as a potential cause for the variability in phenotype of horses with the same kind of dominant white.
A real result can fail to replicate for numerous reasons including inadequate sample size or variability in phenotype definitions across independent samples.
Since variability in phenotype was documented in other tissue-specific knockouts of Vhl [24], [25], we generated Vhl-deficient α-cells in A/J and C57BL/6 backgrounds.
The variability in phenotype associated with CNVs affecting NRXN1 has been examined.
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Pathogens display a remarkable range of variability in phenotypes relevant to disease including transmissibility, organ tropism, and antibiotic resistance.
The factors controlling the total As concentration and the proportions of As species in the rice grain are complicated; genetics is a factor, because there is large variability in phenotypes among different rice cultivars (Norton et al.2009b; Pillai et al.2010; Norton et al.2012).2012
This indicates there is a high variability in phenotypes associated by mutations in SNCA, LRRK2, PARK2, PINK1, and PARK7.
SOX2 mutations are associated with considerable variability in phenotypes and apart from the severe ocular defects, patients rarely exhibit the full spectrum of clinical manifestations.
She points to the value of adopting a broader biological context by considering sex differences as a particular type of reaction norm which addresses the variability in phenotypes that a single genotype can generate in different environments.
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