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S2CID 57512164

Adsorptive properties of graphene oxide on vitamin B12 and their effect on the promotion of peripheral nerve regeneration

A study of seven families with ten children who have features of Rothmund-Thomson syndrome type 1 identified a deep intronic splicing variant in the ANAPC1 gene.[216] Five individuals were homozygous for this variant, and three individuals had a second predicted pathogenic variant in ANAPC1 in trans