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In addition to translated CAG-repeat mutations, a number of non-CAG ataxia genes have been identified with functions as diverse as protein kinases, cytoskeletal and mitochondrial proteins, and proteins regulating intracellular calcium stores [1], [2], [3], [4], [5].
In addition to these mutations, a number of polymorphisms were described in the LRP5 gene (http://www.ncbi.nlm.nih.gov/SNP).nih.gov/SNP
In addition to the clearly deleterious protein-truncating mutations, a number of unclassified sequence variants were detected by sequencing.
For example, in FTLD-TDP caused by progranulin (GRN) mutations, a number of genes and microRNAs have been identified that alter the disease phenotype [ 58].
Much of the reason that selection is detectable at the tyrosine residues is the large number of expected nonsynonymous mutations, a number principally dependent on the tyrosine codon's nucleotide composition.
In addition to true biological mutations, a number of other phenomena contribute to the total number of differences observed between sequencing reads and the reference: sequencing errors, post-mortem damage (and related misincorporations) and local misalignments.
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In mice with GDF5 mutation, a number of abnormalities of joint were found including the decrease in appendicular skeleton and the limb long bones, soft tissue deformities and tendon anomaly.
Mutations in a number of genes have also been associated with gliomagenesis, although many are somatic mutations that do not necessarily result in expression level changes [ 11].
Mutations in a number of genes including SOD1 and FUS are associated with familial ALS.
Second, IN is absolutely required for viral replication and mutations in a number of key residues block the viral replication.
Conceptually, an accumulation of mutations affecting a number of genes affecting disease specific pathways may establish a genetic liability gradient for schizophrenia where a critical threshold is required for the manifestation of the disease state [54].
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CEO of Professional Science Editing for Scientists @ prosciediting.com