When one genetic variant does not explain everything

Marina Aksenova

doi:10.1007/s00467-026-07586-y

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When one genetic variant does not explain everything

2026-10-01

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Marina Aksenova *

Anna Mukhinа

DOI：10.1007/s00467-026-07586-y

Original

Original request for help

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Abstract

Journal

Pediatric Nephrology

IF:

2.6

Papers:

950

Citations:

1.2W

Organization

dmitry rogachev national medical research center of pediatric hematology

Scholars:

Papers: 19

Citations: 1

Cited Papers

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2025-05-28

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Han, Seongjae; Lee, Hyeonju; Park, Peong Gang; Choi, Naye; Ko, Jung Min; Kang, Hee Gyung

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Presentation and outcome in carriers of pathogenic variants in SLC34A1 and SLC34A3 encoding sodium-phosphate transporter NPT 2a and 2c

KIDNEY INTERNATIONAL

IF12.6

2025-01-01

PREAI

Brunkhorst, Max; Brunkhorst, Lena; Papizh, Svetlana; Besouw, Martine; Grasemann, Corinna; Turan, Serap; Sikora, Przemyslaw; Cornelissen, Elisabeth; Fila, Marc; Lilien, Marc; Allgrove, Jeremy; Neuhaus, Thomas J.; Eltan, Mehmet; Espinosa, Laura; Schnabel, Dirk; Gokce, Ibrahim; Gonzalez-Rodriguez, Juan David; Khandelwal, Priyanka; Keijzer-Veen, Mandy G.; Lechner, Felix; Szcepanska, Maria; Zaniew, Marcin; Bacchetta, Justine; Emma, Francesco; Haffner, Dieter

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Biallelic and monoallelic pathogenic variants in CYP24A1 and SLC34A1 genes cause idiopathic infantile hypercalcemia

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2024-03-19

OAAI

Wang, Qiao; Chen, Jia-jia; Wei, Li-ya; Ding, Yuan; Liu, Min; Li, Wen-jing; Su, Chang; Gong, Chun-xiu

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Review of childhood genetic nephrolithiasis and nephrocalcinosis

Frontiers in Genetics

IF0

2024-03-28

OAAI

Ashley M. Gefen; Joshua J. Zaritsky

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