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The ancestral gene for transcribed, low-copy repeats in the Prader-Willi/Angelman region encodes a large protein implicated in protein trafficking, which is deficient in mice with neuromuscular and spermiogenic abnormalities.
Hum Mol Genet. 1999 Mar;8(3):533-42. doi: 10.1093/hmg/8.3.533.
Hum Mol Genet. 1999.
PMID: 9949213
Genetic advances in central nervous system malformations in the fetus and neonate.
Jeng LB, Tarvin R, Robin NH.
Jeng LB, et al.
Semin Pediatr Neurol. 2001 Jun;8(2):89-99. doi: 10.1053/spen.2001.24836.
Semin Pediatr Neurol. 2001.
PMID: 11464961
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