AOPEP Homozygous Loss‐of‐Function Variant in an Indian Patient with Early‐Onset Generalized Dystonia
Author:
Affiliation:
1. Department of Clinical Genetics, University Medical Center Erasmus MC Rotterdam the Netherlands
2. Department of Neurology P D Hinduja National Hospital Mumbai India
Funder
Stichting ParkinsonFonds
Publisher
Wiley
Subject
Neurology (clinical),Neurology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1002/mds.28928
Reference4 articles.
1. Monogenic variants in dystonia: an exome-wide sequencing study
2. Biallelic AOPEP Loss‐of‐Function Variants Cause Progressive Dystonia with Prominent Limb Involvement
3. The mutational constraint spectrum quantified from variation in 141,456 humans
4. The InterPro protein families and domains database: 20 years on
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3. Mutation screening of AOPEP variants in a large dystonia cohort;Journal of Neurology;2023-03-18
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