Sentence examples for mutation was novel from inspiring English sources

Although the clinical characteristics of our patients were consistent with prior reported cases, the observed mutation was novel and different.

In the familial hemiplegic migraine family the mutation was novel and the female proband presented at 42 years of age with a typical attack of hemiplegic migraine with headache, abnormal vision and left-sided motor and sensory weakness that lasted for 45 min to an hour in duration.

The p.S81X mutation is novel.

The c.275C>G mutation is novel and has not been described in other populations.

This mutation is novel, and predicted to be highly damaging for the function of the protein.

The mechanism underlying the K16N mutation is novel as it combines different risk factors apparently resulting in early onset dementia.

The p.M1T mutation has been previously reported, whereas the p.I202N mutation is novel and was not identified in 100 healthy controls.

Lamin A/C truncating mutations have been described before to produce similar forms of DCM [ 21, 22], but this mutation is novel.

Identification of a predicted disease causing mutation via any NGS approach requires validation, particularly if the mutation is novel for this phenotype.

In addition, the p.E113K mutation is novel and is located in the ligand-binding domain of the DDR2 protein (Fig.  1).

This deletion mutation is novel and has been submitted to the CD40L database with the following annotation: Reference sequence NT_011719, variant sequence bases 3083058 3084557 deleted [ 15].