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Eye coloboma and complex cardiac malformations belong to the clinical spectrum of PUF60 variants.
Clin Genet. 2017 Sep;92(3):350-351. doi: 10.1111/cge.12965. Epub 2017 Mar 30.
Clin Genet. 2017.
PMID: 28074499
No abstract available.
Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.
Palomares-Bralo M, Vallespín E, Del Pozo Á, Ibañez K, Silla JC, Galán E, Gordo G, Martínez-Glez V, Alba-Valdivia LI, Heath KE, García-Miñaúr S, Lapunzina P, Santos-Simarro F.
Palomares-Bralo M, et al. Among authors: alba valdivia li.
Genet Med. 2017 Nov;19(11):1285-1286. doi: 10.1038/gim.2017.42. Epub 2017 Apr 27.
Genet Med. 2017.
PMID: 28640240
Free article.
No abstract available.
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