Sentence examples for being the causative mutation from inspiring English sources

Given the clinical presentation of the patient, the NLRP3 p.F566L mutation was the most plausible candidate variant because it was not present in general population databases (ESP, 1000G, or dbSNP), and it was previously reported as being the causative mutation in 2 unrelated patients with CINCA syndrome (2).

p.373Y>C is known to cause thanatophoric dysplasia (13), giving high confidence that this is the causative mutation in F23.

The Richmond team is not sure that any of the intron changes is the causative mutation of schizophrenia and is analyzing the working parts more closely.

The c.1013C>T mutant allele was present in all affected males, and in affected and obligate carrier females, but in none of the other individuals in Family B. The c.1013C>T nucleotide substitution was also not found in any of 300 control individuals of the same ethnic background, which strongly suggests that this is the causative mutation in this family.

Thus, if this is the causative mutation, the penetrance of this defect is not extremely high.

It can therefore be unclear if one particular variant is the causative mutation or not.

Therefore, Ank1 isS13+209the is the causative mutation for the hemolytic hereditary spherocytosis in hema6 mice.

Experimental validation confirmed that TIA1 was the causative mutation for WDM (25, 27).

This animal was mosaic for the mutation [ 24], providing strong evidence that this single nucleotide polymorphism is the causative mutation.

These results demonstrate that the lack of a functional pro41 is the causative mutation in mutant pro23.

The regions detected by QTL mapping generally contain a large number of polymorphisms that could be the causative mutation.