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Hledat publikace relevantní k dotazu "Recurrent Pathogenic Variants"
Recurrent Pathogenic Variants
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publication
Challenges in Establishing the Diagnosis of PRRT2-Related Dystonia: Recurrent Pathogenic Variants in a Homopolymeric Stretch
2023 |
1. lékařská fakulta
publication
UBTF Mutation Causes Complex Phenotype of Neurodegeneration and Severe Epilepsy in Childhood
2019 |
2. lékařská fakulta
publication
A Recurrent Missense Variant in AP2M1 Impairs Clathrin-Mediated Endocytosis and Causes Developmental and Epileptic Encephalopathy
2019 |
2. lékařská fakulta