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XB--480034
Papers associated with slc7a5 (and OMIM)
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The Tudor-domain protein TDRD7, mutated in congenital cataract, controls the heat shock protein HSPB1 (HSP27) and lens fiber cell morphology., Barnum CE, Al Saai S, Patel SD, Cheng C, Anand D, Xu X, Dash S, Siddam AD, Glazewski L, Paglione E, Polson SW, Chuma S, Mason RW, Wei S, Batish M, Fowler VM, Lachke SA., Hum Mol Genet. July 29, 2020; 29 (12): 2076-2097.  |
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Novel truncating mutations in CTNND1 cause a dominant craniofacial and cardiac syndrome., Alharatani R, Ververi A, Beleza-Meireles A, Ji W, Mis E, Patterson QT, Griffin JN, Bhujel N, Chang CA, Dixit A, Konstantino M, Healy C, Hannan S, Neo N, Cash A, Li D, Bhoj E, Zackai EH, Cleaver R, Baralle D, McEntagart M, Newbury-Ecob R, Scott R, Hurst JA, Au PYB, Hosey MT, Khokha M, Marciano DK, Lakhani SA, Liu KJ, Liu KJ., Hum Mol Genet. July 21, 2020; 29 (11): 1900-1921.  |
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From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development., Vancamp P, Darras VM., Gen Comp Endocrinol. September 1, 2018; 265 219-229. |
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Folate-dependent methylation of septins governs ciliogenesis during neural tube closure., Toriyama M, Toriyama M, Wallingford JB, Finnell RH., FASEB J. August 1, 2017; 31 (8): 3622-3635.  |
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