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Katarina Ellnebo
Katarina Ellnebo
Genetics
Medicine
Phenotype
Exome sequencing
Missense mutation
2
Papers
9
Citations
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A Novel DLG3 Mutation Expanding the Phenotype of X-Linked Intellectual Disability Caused by DLG3 Nonsense Variants
2019
Molecular Syndromology
Anna Sandestig
Anna Green
Johan Aronsson
Katarina Ellnebo
Margarita Stefanova
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Citations (2)
Could Dissimilar Phenotypic Effects of ACTB Missense Mutations Reflect the Actin Conformational Change Two Novel Mutations and Literature Review
2018
Molecular Syndromology
Anna Sandestig
Anna Gréen
Jon Jonasson
Hartmut Vogt
Johan Wahlström
Alexander Pepler
Katarina Ellnebo
Saskia Biskup
Margarita Stefanova
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Citations (7)
1