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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)

Lorida Llaci; Keri Ramsey; Newell Belnap; Ana M. Claasen; Chris D. Balak; Szabolcs Szelinger; Wayne M. Jepsen; Ashley L. Siniard; Ryan Richholt; Tyler Izat; Marcus Naymik; Matt De Both; Ignazio S. Piras; David W. Craig; Matthew J. Huentelman; Vinodh Narayanan; Isabelle Schrauwen; Sampathkumar Rangasamy
Human Genetics · Vol. 138, Issue 11-12 · pp. 1409-1417 · 2019
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Bibliographic Information

JournalHuman Genetics
PublisherSpringer
Publication Date2019-12-01
Publication Year2019
Volume138
Issue11-12
Pages1409-1417
Document TypeJournal Article
Print ISSN0340-6717
eISSN1432-1203
DOI10.1007/s00439-019-02077-7

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NARA Access Coverage1964-01-01~Current
Journal Homepagehttps://www.springer.com/journal/439
Publisher PageOpen Publisher Page
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