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Cerebral hypomyelination associated with biallelic variants of FIG4.

Pubmed ID: 
30740813
Year: 
2019
Month: 
Feb
Citation: 
Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH. Cerebral hypomyelination associated with biallelic variants of FIG4. HUMAN MUTATION (2019) PubMed (Grant IDs: GNT1133266)