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Basic Science • 2013 • Genome Research 23(11): 1789-96. PMID: 23913925.

Bar-Yaacov D, Avital G, Levin L, Richards AL, Hachen N, Rebolledo Jaramillo B, Nekrutenko A, Zarivach R, Mishmar D

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Rare Disease • 2014 • Biomarkers in Medicine 8(5): 641-652. PMID: 25123033.

Leoyklang P, Malicdan MC, Yardeni T, Celeste F, Ciccone C, Li X, Jiang R, Gahl WA, Carrillo-Carrasco N, He M, Huizing M

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