Varaico: Literature-Extracted Genetic Variants

Gene:KLHL38
Variant:p.K508E
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KLHL38

NM_001081675.3:p.K508E

Associated Papers

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.

Xu J et al.

European Journal of Neurology, 2024

39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

Young WJ et al.

Nature Communications, 2022

36050321 (PubMed )
Supplement: 41467_2022_32821_MOESM4_ESM.xlsx › Data_12a

Sequence variants with large effects on cardiac electrophysiology and disease.

Norland K et al.

Nature Communications, 2019

31641117 (PubMed )
Supplement: 41467_2019_12682_MOESM5_ESM.xlsx › Sheet1
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