Browsing "Medical Genetics" by Keyword : Amino Acid Substitution

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Showing results 3 to 5 of 5

Pub YearTitleAuthor(s)
2015Identification and in vivo functional characterization of novel compound heterozygous BMP1 variants in osteogenesis imperfecta.손영배
2016Low Frequency of MKRN3 Mutations in Central Precocious Puberty Among Korean Girls권은별, 이해상, 정선용, 황진순
2019Neuronopathic Gaucher disease presenting with microcytic hypochromic anemia손영배
1

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