Varaico: Literature-Extracted Genetic Variants

Gene:DNAJC30
Variant:p.E118*
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DNAJC30

NM_032317.3:p.E118*

Associated Papers

An Unusual Presentation of Leber Hereditary Optic Neuropathy-Plus Case Caused by a Novel DNAJC30 Variant.

Şenol HB et al.

American Journal of Medical Genetics. Part A, 2025

Pilot clinical trial and phenotypic analysis in chemotherapy-pretreated, metastatic triple-negative breast cancer patients treated with oral TAK-228 and TAK-117 (PIKTOR) to increase DNA damage repair deficiency followed by cisplatin and nab paclitaxel.

Lang JD et al.

Biomarker Research, 2023

37491309 (PubMed )
Supplement: 40364_2023_511_MOESM16_ESM.xlsx › 10LD
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