Publications:

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy.

Human Molecular Genetics

Custer, Sara K SK; Todd, Adrian G AG; Singh, Natalia N NN; Androphy, Elliot J EJ

Publication Date: 2013-10-15

Variant appearance in text: SMA: K82A

PubMed Link: 23727837

Variant Present in the following documents:

• Main text

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