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Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 64 5

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome 64 5
Digital博士論文障害者向け資料あり
清水, 日智Springer Nature2020-03-19Journal of Human Genetics
National Diet Library
  • Author Heading清水, 日智

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome

Identification of a homozygous frameshift variant in RFLNA in a patient with a typical phenotype of spondylocarpotarsal synostosis syndrome
Digital博士論文
清水, 日智Springer Nature2020-03-19Journal of Human Genetics64 5p.467-471
Available onlineOther Libraries in Japan
  • Author Heading清水, 日智

長崎医学会雑誌

長崎医学会雑誌
Paper雑誌
長崎医学会1923-<Z19-185>
National Diet LibraryOther Libraries in Japan
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ヒューマンインタフェース学会研究報告集

ヒューマンインタフェース学会研究報告集
Recording Media雑誌電子資料
ヒューマンインタフェース学会[2011]-<YH247-1099>
National Diet LibraryOther Libraries in Japan
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