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Diagnosis and phenotypic characterization of ROSAH syndrome through whole exome sequence and segregation analysis

Authors :
Demitrios Dedousis
Anna L. Mitchell
Source :
Molecular Genetics and Metabolism. 132:S122-S123
Publication Year :
2021
Publisher :
Elsevier BV, 2021.

Subjects

Subjects :
Endocrinology
Endocrinology, Diabetes and Metabolism
Genetics
Computational biology
Biology
Molecular Biology
Biochemistry
Exome
Phenotype
Sequence (medicine)

Details

ISSN :
10967192
Volume :
132
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism
Accession number :
edsair.doi...........96643122c2f9c7c81a9afe7e3acbf207

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