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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Jan 25, 2025. (Total: 235671Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Mental Retardation and MAP2K2[original query]
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
European journal of human genetics : EJHG 2009 Jun 17 (6): 733-40.
Dentici Maria Lisa, Sarkozy Anna, Pantaleoni Francesca, Carta Claudio, Lepri Francesca, Ferese Rosangela, Cordeddu Viviana, Martinelli Simone, Briuglia Silvana, Digilio Maria Cristina, Zampino Giuseppe, Tartaglia Marco, Dallapiccola Bru
Molecular and clinical analysis of RAF1 in Noonan syndrome and related disorders: dephosphorylation of serine 259 as the essential mechanism for mutant activation.
Human mutation 2010 1 31 (3): 284-94.
Kobayashi Tomoko, Aoki Yoko, Niihori Tetsuya, Cavé Hélène, Verloes Alain, Okamoto Nobuhiko, Kawame Hiroshi, Fujiwara Ikuma, Takada Fumio, Ohata Takako, Sakazume Satoru, Ando Tatsuya, Nakagawa Noriko, Lapunzina Pablo, Meneses Antonio G, Gillessen-Kaesbach Gabriele, Wieczorek Dagmar, Kurosawa Kenji, Mizuno Seiji, Ohashi Hirofumi, David Albert, Philip Nicole, Guliyeva Afag, Narumi Yoko, Kure Shigeo, Tsuchiya Shigeru, Matsubara Yoic
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