Klippel-Feil Syndrome 4

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References Literature
Klippel-Feil Syndrome 4 is related to klippel-feil syndrome 4, autosomal recessive, with nemaline myopathy and facial dysmorphism and heparin cofactor ii deficiency. An important gene associated with Klippel-Feil Syndrome 4 is MYO18B (Myosin XVIIIB), and among its related pathways/superpathways are LT-BetaR Pathway and Signaling by ALK. Affiliated tissues include bone, and related phenotypes are Increased shRNA abundance (Z-score > 2) and Decreased viability after gemcitabine stimulation
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Basic Information

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Reference
MALACARDS
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Unknown
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10
99
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Gene & Mutation

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References Literature

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