Varaico: Literature-Extracted Genetic Variants

Gene:KCNE5
Variant:p.L29F
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KCNE5

NM_012282.4:p.L29F

Associated Papers

The temporal mutational and immune tumour microenvironment remodelling of HER2-negative primary breast cancers.

De Mattos-Arruda L et al.

Npj Breast Cancer, 2021

34099718 (PubMed )
Supplement: 41523_2021_282_MOESM1_ESM.xlsx › Suppl_Table_1

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s007.pdf
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