Varaico: Literature-Extracted Genetic Variants

Gene:TPRKB
Variant:p.L83F
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TPRKB

NM_016058.5:p.L83F

Associated Papers

A novel homozygous in-frame deletion variant in TPRKB causing Galloway-Mowat syndrome 5.

Kaur N et al.

Neurogenetics, 2026

Case Report: Novel compound heterozygous TPRKB variants cause Galloway-Mowat syndrome.

Hiraide T et al.

Frontiers in Pediatrics, 2024

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