Varaico: Literature-Extracted Genetic Variants

Gene:KAT2B
Variant:p.F307S
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KAT2B

NM_003884.5:p.F307S

Associated Papers

K acetyltransferase 2B (KAT2B) variants can be responsible for early onset steroid-resistant nephrotic syndrome.

Niel O et al.

Journal of Medical Genetics, 2024

Inter-Species Rescue of Mutant Phenotype-The Standard for Genetic Analysis of Human Genetic Disorders in Drosophila melanogaster Model.

Ecovoiu AA et al.

International Journal of Molecular Sciences, 2022

Correction: A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S et al.

Plos Genetics, 2018

A homozygous KAT2B variant modulates the clinical phenotype of ADD3 deficiency in humans and flies.

Gonçalves S et al.

Plos Genetics, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."