Varaico: Literature-Extracted Genetic Variants

Gene:EXPH5
Variant:p.N1404insFs
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EXPH5

NM_015065.3:p.N1404insFs

Associated Papers

Recessive epidermolysis bullosa simplex due to EXPH5 variants: case series of a rare subtype with multiple faces.

Grutters LA et al.

The British Journal of Dermatology, 2025

Refined variant calling pipeline on RNA-seq data of breast cancer cell lines without matched-normal samples.

Eberth S et al.

Bmc Research Notes, 2025

39955561 (PubMed )
Supplement: 13104_2025_7140_MOESM3_ESM.xlsx › snv_indel_maf_less20_Project_bc
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