Bi-allelic loss of ERGIC1 in relatively mild arthrogryposis-MedSci.cn - 梅斯（MedSci）

Bi-allelic loss of ERGIC1 in relatively mild arthrogryposis

Marconi, C; Lemmens, L; Masclaux, F; Mattioli, F; Fluss, J; Extermann, P; Mendez, P; Leuchter, RHV; Stathaki, E; Laurent, S; Vanier, A; Varvagiannis, K; Guipponi, M; Sloan-Bena, F; Blouin, JL; Marc, A; Fokstuen, S

EUROPEAN JOURNAL OF HUMAN GENETICS, 2022; 30 (SUPPL 1): 308

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