A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome - Concepedia

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Publication | Open Access

A hot-spot mutation in CDC42 (p.Tyr64Cys) and novel phenotypes in the third patient with Takenouchi-Kosaki syndrome

DOI Full Paper Access

44

Citations

9

References

2018

Year

Midori Motokawa, Satoshi Watanabe, Akiko Nakatomi, Tatsuro Kondoh, Tadashi Matsumoto, Kanako Morifuji, Hirotake Sawada, Toyoki Nishimura, Hiroyuki Nunoi, Koh-ichiro Yoshiura,

Journal of Human Genetics

Mendelian DisorderGenetic DisorderHot-spot MutationGeneticsPathogenesisPathologyMolecular GeneticsDisease Gene IdentificationMedicineTakenouchi-kosaki SyndromeVariant InterpretationClinical GeneticsThird Patient

References

	Year	Citations

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