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CC BY-NC-ND 4.0
2021-03-19

Spinocerebellar ataxia type 14 : refining clinicogenetic diagnosis in a rare a ...

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