Authors' Reply: Using VNtyper from Whole Exome Sequencing Data to Detect Pathogenic Variants in the MUC1 Gene.

Autor: Bensouna I; Soins Intensifs Néphrologiques et Rein Aigu (SINRA), Nephrology Department, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.; Inserm UMR_S1155, Paris, France., Robert T; Nephrology and Kidney Transplantation Center, Assistance publique-Hôpitaux de Marseille, La Conception Hospital, Marseille, France.; Aix Marseille Univ, INSERM, INRAE, C2VN, Marseille, France., Vanhoye X; Eurofins Biomnis laboratory, Lyon, France., Mesnard L; Soins Intensifs Néphrologiques et Rein Aigu (SINRA), Nephrology Department, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.; Inserm UMR_S1155, Paris, France.; Centre Maladie Rare MAHREA, Tenon Hospital, Assistance Publique - Hôpitaux de Paris, Paris, France.; Medicine Faculty, Paris Sorbonne University, Paris, France.
Jazyk: angličtina
Zdroj: Journal of the American Society of Nephrology : JASN [J Am Soc Nephrol] 2024 Dec 09. Date of Electronic Publication: 2024 Dec 09.
DOI: 10.1681/ASN.0000000575
Databáze: MEDLINE