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A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.
Werren, Elizabeth A; Kalsner, Louisa; Ewald, Jessica; Peracchio, Michael; King, Cameron; Vats, Purva; Audano, Peter A; Robinson, Peter N; Adams, Mark D; Kelly, Melissa A; Matson, Adam P.
Affiliation
  • Werren EA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Kalsner L; Connecticut Children's Medical Center, Hartford, CT 06106, USA.
  • Ewald J; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Peracchio M; Connecticut Children's Medical Center, Hartford, CT 06106, USA.
  • King C; Connecticut Children's Medical Center, Hartford, CT 06106, USA.
  • Vats P; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Audano PA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Robinson PN; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Adams MD; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Kelly MA; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, 06032, USA.
  • Matson AP; Connecticut Children's Medical Center, Hartford, CT 06106, USA.
bioRxiv ; 2024 Apr 22.
Article in En | MEDLINE | ID: mdl-38712026
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: BioRxiv Year: 2024 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos
Fulltext
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Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: BioRxiv Year: 2024 Document type: Article Affiliation country: Estados Unidos Country of publication: Estados Unidos