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A de novo variant in PAK2 detected in an individual with Knobloch type 2 syndrome.

Autor: 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.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2024 Apr 22. Date of Electronic Publication: 2024 Apr 22.