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COL4A4 variant recently identified: lessons learned in variant interpretation-a case report.
Cocorpus, Jenelle; Hager, Megan M; Benchimol, Corinne; Bijol, Vanesa; Salem, Fadi; Punj, Sumit; Castellanos, Laura; Singer, Pamela; Sethna, Christine B; Basalely, Abby.
Afiliación
  • Cocorpus J; Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA.
  • Hager MM; , Natera, San Carlos, CA, USA.
  • Benchimol C; Pediatric Nephrology, Mount Sinai, New York, NY, USA.
  • Bijol V; Renal Pathology, Northwell Health, Lake Success, NY, USA.
  • Salem F; Pathology, Molecular and Cell Based Medicine, Mount Sinai, New York, NY, USA.
  • Punj S; , Natera, San Carlos, CA, USA.
  • Castellanos L; Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA.
  • Singer P; Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA.
  • Sethna CB; Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA.
  • Basalely A; Pediatric Nephrology, Cohen Children's Medical Center of New York, 269-01 76th Avenue, New Hyde Park, NY, 11040, USA. abasalely@northwell.edu.
BMC Nephrol ; 23(1): 253, 2022 07 16.
Article en En | MEDLINE | ID: mdl-35842573
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Colágeno Tipo IV / Nefritis Hereditaria Tipo de estudio: Diagnostic_studies / Prognostic_studies Límite: Child / Female / Humans Idioma: En Revista: BMC Nephrol Asunto de la revista: NEFROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Estados Unidos