Varaico: Literature-Extracted Genetic Variants

Gene:ESR1
Variant:p.D411N
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ESR1

NM_000125.4:p.D411N

Associated Papers

Extensive intratumor regional epigenetic heterogeneity in clear cell renal cell carcinoma targets kidney enhancers and is associated with poor outcome.

El Khoury LY et al.

Clinical Epigenetics, 2023

37120552 (PubMed )
Supplement: 13148_2023_1471_MOESM1_ESM.xlsx › S3_Mutations_by_NGS

Variants encoding a restricted carboxy-terminal domain of SLC12A2 cause hereditary hearing loss in humans.

Mutai H et al.

Plos Genetics, 2020

32294086 (PubMed )
Supplement: pgen.1008643.s015.pdf
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