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The B-Raf V600E mutation represents the most frequent oncogenic kinase mutation known and is responsible for increased kinase activity in approximately 7% of all human cancers, establishing B-Raf as an important therapeutic target for inhibition.
Other forms of parkinsonism are the consequence of dominant or recessive mutations in specific genes, e.g. α-synuclein, parkin and, more recently, leucine-rich repeat kinase 2 (LRRK2), whose G2019S mutation represents the most prevalent form of late-onset, autosomal dominant familial PD.
This new mutation represents the most frequent cause of SCA so far in Galicia.
IDH1 R132H mutation represents the most common IDH mutation (approximately 90%).
Despite these limitations, we believe that the 249ser TP53 mutation represents the best biomarker currently available to assess the biological effect of cumulative aflatoxin exposure.
The p.I107T mutation represents the second naturally occurring mutation in the 12-amino-acid-loop of the third GCAP1 EF hand.
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Mutation, representing the main source of variation, happens at random.
Six classes of CFTR mutations have been described, with the class II F508del-CFTR mutation representing the most common CFTR mutation worldwide [2].
To conclude, the present study showed that presence of KRAS mutations represents the strongest predictor for cetuximab failure in EGFR FISH-positive CRC patients.
Interstitial lung disease due to proSP-C BRICHOS mutations represents the first example of an amyloid disease caused by aberrant chaperone activity.
Nucleophosmin-1 (NPmutationsions represent the most frequent gene alteration in acute myeloid leukemia (AML).
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