Varaico: Literature-Extracted Genetic Variants

Gene:KLHL40
Variant:p.G469S
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KLHL40

NM_152393.4:p.G469S

Associated Papers

Case report: Homozygous variants of NEB and KLHL40 in two Arab patients with nemaline myopathy.

Skrypnyk C et al.

Frontiers in Genetics, 2023

Nemaline Myopathy in Brazilian Patients: Molecular and Clinical Characterization.

Gurgel-Giannetti J et al.

International Journal of Molecular Sciences, 2022

Mutational landscape of high-grade B-cell lymphoma with MYC-, BCL2 and/or BCL6 rearrangements characterized by whole-exome sequencing.

Künstner A et al.

Haematologica, 2022

34788985 (PubMed )
Supplement: 2021_279631_KUNSTNER_TABS5_SUPPL.xlsx › Variants
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