Concepedia

Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome

Maria Vanegas, Anna Marcé‐Grau, Laura Martí‐Sánchez, Sara Mellid, Heidy Baide‐Mairena, Marta Correa‐Vela, Anna Cazurro, Carla Rodríguez, Laura Toledo, Joaquín Alejandro Fernández‐Ramos,

Parkinsonism & Related Disorders · 2020 · 18 citations · 29 references

DOI

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References

29

The Protein Data Bank

Helen M. Berman · Nucleic Acids Research · 2000 · 39.8K citations

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Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri J. Bale et al. · Genetics in Medicine · 2015 · 32.2K citations · Full text

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UniProt: a worldwide hub of protein knowledge

Nucleic Acids Research · 2018 · 8.4K citations · Full text

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Statistics notes: Cronbach's alpha: Table 1

J M. Bland · BMJ · 1997 · 5.3K citations · Full text

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PhosphoSitePlus, 2014: mutations, PTMs and recalibrations

Peter Hornbeck, Bin Zhang, Beth Murray et al. · Nucleic Acids Research · 2014 · 3.5K citations · Full text

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