Quantitative evidence evaluation for singleton rare missense variants in rare distinctive adult-onset phenotypes: the exemplar of SDHB and SDHD

Subjects

Subjects :

Genetics
Endocrinology
SDHB
Singleton
Endocrinology, Diabetes and Metabolism
Qualitative evidence
Missense mutation
SDHD
Biology
Molecular Biology
Biochemistry
Phenotype

Details

ISSN :

10967192

Volume :

132

Database :

OpenAIRE

Journal :

Molecular Genetics and Metabolism

Accession number :

edsair.doi...........ee76376bddb4ef3664399c078dc8d7c0

Full Text :

https://doi.org/10.1016/s1096-7192(21)00138-4