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Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities |
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Titel: |
Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities |
Auteur: |
Miyake, Noriko Takahashi, Hidehisa Nakamura, Kazuyuki Isidor, Bertrand Hiraki, Yoko Koshimizu, Eriko Shiina, Masaaki Sasaki, Kazunori Suzuki, Hidefumi Abe, Ryota Kimura, Yayoi Akiyama, Tomoko Tomizawa, Shin-ichi Hirose, Tomonori Hamanaka, Kohei Miyatake, Satoko Mitsuhashi, Satomi Mizuguchi, Takeshi Takata, Atsushi Obo, Kazuyuki Kato, Mitsuhiro Ogata, Kazuhiro Matsumoto, Naomichi |
Verschenen in: |
The American journal of human genetics |
Paginering: |
Jaargang 106 () nr. 1 pagina's 13-25 |
Jaar: |
2020 |
Inhoud: |
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Uitgever: |
American Society of Human Genetics |
Bronbestand: |
Elektronische Wetenschappelijke Tijdschriften |
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