Genetic testing for lysosomal disorders in a commercial...

Molecular Genetics and Metabolism 2018 / 02 Vol. 123; Iss. 2

Genetic testing for lysosomal disorders in a commercial laboratory: Use of pathognomonic criteria in variant interpretation

Murillo, Laura, Harte, Rachel, Wong, Stacey, Ho, Yuan-Yuan, Beltran, Daniel, Fox, Michelle, White, Hannah, Winder, Tom, Johnson, Britt
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Volume:
123
Language:
english
Journal:
Molecular Genetics and Metabolism
DOI:
10.1016/j.ymgme.2017.12.268
Date:
February, 2018
File:
PDF, 72 KB
english, 2018
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