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Muggeo M, Moghetti P, Querena M, Cacciatori V, Zoppini G, et al

Cel Biochem 399 (1-2), 95103

A BBSome interaction deficient version of TOM1L2 was generated by mutating WLR to AAA

HPBDS is associated with severe psychomotor impairment, congenital hearing loss, bilateral cataracts, and low serum ceruloplasmin and copper

b: n = 8 biological replicates
