Varaico: Literature-Extracted Genetic Variants

Gene:BRCA1
Variant:p.D1692Splc
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BRCA1

NM_007294.4:p.D1692Splc

Associated Papers

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

Accurate classification of BRCA1 variants with saturation genome editing.

Findlay GM et al.

Nature, 2018

30209399 (PubMed )
Supplement: NIHMS1501643-supplement-3.xlsx › Conflicting_interpretations
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