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To provide a comprehensive overview of all detected mutations in the ABCA4 gene in Spanish families with autosomal recessive retinal disorders, including Stargardt's disease (arSTGD), cone-rod dystrophy (arCRD), and retinitis pigmentosa (arRP), and to assess genotype-phenotype correlation and disease progression in 10 years by considering the type of variants and age at onset.
Table S3 contains details of burden analyses for each type of variants.
Type of variants: Variations were categorized as insertions, deletions and substitutions to facilitate the search of variants of choice.
We set no prior criteria for the genes to be included in the analysis, nor for the type of variants to be considered.
Results from Figure 2 show the type of variants that segregated in the worm population after 80 generations of natural selection.
Recent genomic information, however, has revealed that structural variation is more common than previously thought, increasing the interest in this type of variants [ 4 7].
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This type of variant, designated as SD variant, cannot express pce genes.
We have added the type of variant results in which the voter is able to judge.
More than three-quarters of long-distance triathletes had one type of variant, for example.
For example authors do not specify which type of variant outputs their solutions are able to process.
This table states the corresponding recommended fault tolerance technique, given the type of variant results provided to the voter and the type of voter.
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