Summary of all tubulin isotypes considered for this study.
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The number of dominant pathogenic mutations identified for each isotype is denoted, as well as their pathogenicity classification. Where necessary, additional comments about the pathogenicity type and references for all mutations are also included. MCM = missense constraint metric (Z-Score obtained from gnomAD); ALS = amyotrophic lateral sclerosis; H-ABC = hypomyelination with atrophy of basal ganglia and cerebellum.
创建时间:
2022-10-07



