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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

Document Type

Article

Author

Laboy Cintron, D.; Muir, A.M.; Mefford, H.C.; Scott, A.; McDonald, M.; Monaghan, K.G.; Santiago-Sim, T.; Wentzensen, I.M.; De Luca, C.; Brancati, F.; Harris, D.J.; Goueli, C.; Prada, C.E.; Stottmann, R.; Biderman Waberski, M.

Source

In: Human Genetics and Genomics Advances. (Human Genetics and Genomics Advances, 13 January 2022, 3(1))

Subject

Language

English

ISSN

26662477

Online Access

Full Text (ScienceDirect 종량제) Full Text (Clinical Key) Full Text (ScienceDirect O/A) Web of Science Scopus Find it@PNU

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