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16p13.11 microdeletion uncovers loss-of-function of a MYH11 missense variant in a patient with megacystis-microcolon-intestinal-hypoperistalsis syndrome

Document Type

Article

Author

Kloth, K.; Renner, S.; Kolbe, V.; Hempel, M.; Rosenberger, G.; Burmester, G.; Steinemann, D.; Pabst, B.; Lorenz, B.; Simon, R.

Source

In: Clinical Genetics. (Clinical Genetics, July 2019, 96(1):85-90)

Subject

Language

English

ISSN

13990004
00099163

Online Access

Full Text (Wiley Journals) Full Text (Wiley-DB) Web of Science JCR 저널정보 Scopus Find it@PNU

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