Genetics in Medicine container_h2z5pwtf7veqbi7mqc2bhke44a

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Clustered variants in the 5' coding region of TRA2B cause a distinctive neurodevelopmental syndrome

Francis Ramond, Caroline Dalgliesh, Mona Grimmel, Oded Wechsberg, Annalisa Vetro, Renzo Guerrini, David FitzPatrick, Rebecca L. Poole, Marine Lebrun, Allan Bayat, Ute Grasshoff, Miriam Bertrand (+19 others)
2022 | Genetics in Medicine
doi:10.1016/j.gim.2022.100003   pmid:36549593  

Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities

Elisa Cali, Mohnish Suri, Marcello Scala, Matteo P. Ferla, Shahryar Alavi, Eissa Ali Faqeih, Emilia K. Bijlsma, Kristen M. Wigby, Diana Baralle, Mohammad Y.V. Mehrjardi, Jennifer Schwab, Konrad Platzer (+55 others)
2022 | Genetics in Medicine
doi:10.1016/j.gim.2022.09.016   pmid:36399134  
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Preservation Summary [more]
2,951 preserved and accessble (bright)
2,381 preserved, inaccessible (dark)
16 no known preservation
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article-journal 5,326
unknown-type 16
letter 6
ISSN-L?  1098-3600
    Print:  1098-3600
    Electronic:  1530-0366
Wikidata  Q15765508
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Revision: c862a82b-95bb-4be9-b58c-65171bd79ed8