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Missense variants in the spectrin repeat domain ofDSPare as..:

Grondin, Steffany ; Wazirian, Avedis‐Christ ; Jorda, Paloma...
American Journal of Medical Genetics Part A.  182 (2020)  10 - p. 2359-2368 , 2020
Link: https://doi.org/10.1002/ajmg.a.61799