Associated Papers
Mutations in PRKCSH cause isolated autosomal dominant polycystic liver disease.
Li A et al.
American Journal of Human Genetics, 2003
Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.
Messiaen LM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 0
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