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Genetic counseling dilemma in neuronal ceroid lipofuscinosis associated with variants of unknown significance in whole exome sequencing: A case report

Authors :
Emily C. Lisi
Allison Foley
Suma P. Shankar
Source :
Molecular Genetics and Metabolism. 117:S74
Publication Year :
2016
Publisher :
Elsevier BV, 2016.

Subjects

Subjects :
Genetics
Endocrinology
Unknown Significance
Endocrinology, Diabetes and Metabolism
Genetic counseling
medicine
Neuronal ceroid lipofuscinosis
Biology
medicine.disease
Molecular Biology
Biochemistry
Exome sequencing

Details

ISSN :
10967192
Volume :
117
Database :
OpenAIRE
Journal :
Molecular Genetics and Metabolism
Accession number :
edsair.doi...........245bb441d4010d8cd242d43f23d7ae79

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