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Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome

Dmitrijs Rots, Arianne Bouman, Ayumi Yamada, Michael A. Levy, Alexander J.M. Dingemans, Bert B.A. de Vries, Martina Ruiterkamp‐Versteeg, Nicole de Leeuw, Charlotte W. Ockeloen, Rolph Pfundt,

The American Journal of Human Genetics · 2024 · 20 citations · 52 references

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52

Highly accurate protein structure prediction with AlphaFold

John Jumper, Alexander Pritzel, Tim Green et al. · Nature · 2021 · 45.2K citations · Full text

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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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AlphaFold Protein Structure Database: massively expanding the structural coverage of protein-sequence space with high-accuracy models

Mihály Váradi, Stephen Anyango, Mandar Deshpande et al. · Nucleic Acids Research · 2021 · 8.3K citations · Full text

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UniProt: the universal protein knowledgebase

Nucleic Acids Research · 2016 · 4.7K citations · Full text

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ClinVar: improving access to variant interpretations and supporting evidence

Melissa Landrum, Jennifer M. Lee, Mark J. Benson et al. · Nucleic Acids Research · 2017 · 4.5K citations · Full text

, , +17