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Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.

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Title: Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
Authors: Maselli, Ricardo A.1, ramaselli@ucdavis.edu, Arredondo, Juan1, Vázquez, Jessica1, Chong, Jessica X.2, Bamshad, Michael J.2,3,4, Nickerson, Deborah A.3, Lara, Marian1, Ng, Fiona1, Lo, Victoria L.1, Pytel, Peter5, McDonald, Craig M.6
Source: American Journal of Medical Genetics. Part A; Aug2017, Vol. 173 Issue 8, p2240-2245, 6p
Database: Applied Science & Technology Source
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PubType: Academic Journal
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  Data: Presynaptic congenital myasthenic syndrome with a homozygous sequence variant in LAMA5 combines myopia, facial tics, and failure of neuromuscular transmission.
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  Data: <searchLink fieldCode="AU" term="%22Maselli%2C+Ricardo+A%2E%22">Maselli, Ricardo A.</searchLink><relatesTo>1</relatesTo>, <i>ramaselli@ucdavis.edu</i><br /><searchLink fieldCode="AU" term="%22Arredondo%2C+Juan%22">Arredondo, Juan</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Vázquez%2C+Jessica%22">Vázquez, Jessica</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Chong%2C+Jessica+X%2E%22">Chong, Jessica X.</searchLink><relatesTo>2</relatesTo><br /><searchLink fieldCode="AU" term="%22Bamshad%2C+Michael+J%2E%22">Bamshad, Michael J.</searchLink><relatesTo>2,3,4</relatesTo><br /><searchLink fieldCode="AU" term="%22Nickerson%2C+Deborah+A%2E%22">Nickerson, Deborah A.</searchLink><relatesTo>3</relatesTo><br /><searchLink fieldCode="AU" term="%22Lara%2C+Marian%22">Lara, Marian</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Ng%2C+Fiona%22">Ng, Fiona</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Lo%2C+Victoria+L%2E%22">Lo, Victoria L.</searchLink><relatesTo>1</relatesTo><br /><searchLink fieldCode="AU" term="%22Pytel%2C+Peter%22">Pytel, Peter</searchLink><relatesTo>5</relatesTo><br /><searchLink fieldCode="AU" term="%22McDonald%2C+Craig+M%2E%22">McDonald, Craig M.</searchLink><relatesTo>6</relatesTo>
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  Data: <searchLink fieldCode="JN" term="%22American+Journal+of+Medical+Genetics%2E+Part+A%22">American Journal of Medical Genetics. Part A</searchLink>; Aug2017, Vol. 173 Issue 8, p2240-2245, 6p
PLink https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=aci&AN=124091773
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        Value: 10.1002/ajmg.a.38291
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              Text: Aug2017
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