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Spinocerebellar ataxia type 14 : refining clinicogenetic diagnosis in a rare adult-onset disorder

Objectives: Genetic variant classification is a challenge in rare adult-onset disorders as in SCA-PRKCG (prior spinocerebellar ataxia type 14) with mostly private conventional mutations and nonspecific phenotype. We here propose a refined approach for clinicogenetic diagnosis by including protein modeling…
Chichester [u.a.]: Wiley, 2021-03-19