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Browsing "Medical Genetics" by Keyword : Mutation, Missense

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Showing results 8 to 10 of 10

Pub YearTitleAuthor(s)
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls권은별, 이해상, 정선용, 황진순
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
2012Two novel insulin receptor gene mutations in a patient with Rabson-Mendenhall syndrome: the first Korean case confirmed by biochemical, and molecular evidence손영배
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