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Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems
- Kim, H.;
- Rosenfeld, J. A.;
- Scott, D. A.;
- Benedicte, G.;
- Labonne, J. D.;
- ... Kong, I.;
- 외 18명
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- Haploinsufficiency of PHF21A due to frameshift and nonsense mutations causes syndromic autism including intellectual disability, craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems
- 저자
- Kim, H.; Rosenfeld, J. A.; Scott, D. A.; Benedicte, G.; Labonne, J. D.; Brown, J.; McGuire, M.; Mahida, S.; Naidu, S.; Gutierrez, J.; Lesca, G.; Portes, V. D.; Bruel, A.; Sorlin, A.; Xia, F.; Capri, Y.; Muller, E.; McKnight, D.; Torti, E.; Layman, L. C.; Ryu, D.; Kong, I.; Madan-Khetarpal, S.; Kim, C.
- 발행일
- 2019-10
- 유형
- Meeting Abstract
- 권
- 27
- 페이지
- 1394 ~ 1394