Concepedia

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel R. Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmão, Tomi L. Toler,

Molecular Genetics and Metabolism · 2023 · 13 citations · 33 references

DOIFull text

Open access

Concepts

References

33

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

, , +17

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants

Nilah M. Ioannidis, Joseph H. Rothstein, Vikas Pejaver et al. · The American Journal of Human Genetics · 2016 · 3K citations · Full text

, , +14

SIFT missense predictions for genomes

Robert Vaser, Swarnaseetha Adusumalli, Sim Ngak Leng et al. · Nature Protocols · 2015 · 1.6K citations · Full text

, , +5

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

Nara Sobreira, François Schiettecatte, David Valle et al. · Human Mutation · 2015 · 1.6K citations · Full text

, , +15

Improved prediction of protein side‐chain conformations with SCWRL4

Georgii G. Krivov, Maxim V. Shapovalov, Roland L. Dunbrack · Proteins Structure Function and Bioinformatics · 2009 · 1.4K citations · Full text

, , +17