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The DMRT3 mutation affects mainly ambling ability, which suggests that the ability to perform this gait may also be a factor of disqualification in trotting races.
It is worth mentioning that BRAF mutation affects mainly one signalling pathway for cell proliferation, whereas KRAS mutation affects multiple pathways (Fig. 1); therefore, the impact of BRAF mutation is less than that of KRAS mutation.
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Rett syndrome is a neurological disorder resulting from an X-linked mutation, affecting mainly females, and found across racial and ethnic groups worldwide.
RET point mutations affect mainly exons 10, 11, and 16.
In accordance with previous reports [ 4, 5, 8, 20], their BTK mutations affected mainly SH1 domain; this may be explained by the length of SH1 domain.
It affects mainly girls.
For reasons not fully understood, AFM affects mainly children.
Interestingly, this disease affects mainly women.
Mutations in this gene affect mainly eye size (microphthalmy) and pigment cells: The melanocytes of the skin, which are derived from the neural crest, and the retinal pigment epithelial cells of the eye, which are derived from the brain of the embryo.
Located at the trimer interface, this mutation affects the catalytic site (similar to other Art syndromes causing mutations), mainly R5P binding site, but does not affect the allosteric sites (similar to CMTX5) [ 21].
It is caused by germline mutations in MMR genes, not only affecting mainly MLH1 and MSH2 (∼40% each) but also MSH6 and PMS2 (∼10% and 5%, respectively).
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