Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.D92V
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HAP1

NM_177977.3:p.D92V

Associated Papers

Saturation genome editing maps the functional spectrum of pathogenic VHL alleles.

Buckley M et al.

Nature Genetics, 2024

38969834 (PubMed )
Supplement: 41588_2024_1800_MOESM4_ESM.xlsx › ST1

Mutational profiling of micro-dissected pre-malignant lesions from archived specimens.

Nachmanson D et al.

Bmc Medical Genomics, 2020

33208147 (PubMed )
Supplement: 12920_2020_820_MOESM2_ESM.xlsx › S8_DCIS_Mutations
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