June 20, 2023 article Open access A novel biallelic frameshift variant in C2orf69 causing developmental regression, seizures, microcephaly, autistic features, and hypertonia American Journal of Medical Genetics Part A DOI: 10.1002/ajmg.a.63310 Full text (OA) OpenAlex Authors 0 Author list not loaded yet. Cited by 0 stored of 6 References 1 Search Sort Most cited Newest Oldest Patent citations Title Any typearticle review book-chapter conference-paper preprint dissertation book dataset other Any fieldAgricultural and Biological Sciences Arts and Humanities Biochemistry, Genetics and Molecular Biology Business, Management and Accounting Chemical Engineering Chemistry Computer Science Decision Sciences Dentistry Earth and Planetary Sciences Economics, Econometrics and Finance Energy Engineering Environmental Science Health Professions Immunology and Microbiology Materials Science Mathematics Medicine Neuroscience Nursing Pharmacology, Toxicology and Pharmaceutics Physics and Astronomy Psychology Social Sciences Veterinary Open access C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation 2021 Journal of Clinical Investigation article Biochemistry, Genetics and Molecular Biology Mitochondrial Function and Pathology Open access 23 citations 1 result