Varaico: Literature-Extracted Genetic Variants

Gene:BRCA2
Variant:p.L3216_M3217Splc
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BRCA2

NM_000059.4:p.L3216_M3217Splc

Associated Papers

The dark matter of the cancer genome: aberrations in regulatory elements, untranslated regions, splice sites, non-coding RNA and synonymous mutations.

Diederichs S et al.

Embo Molecular Medicine, 2016

26992833 (PubMed )
Supplement: EMMM-8-442-s002.docx

Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects.

Messiaen LM et al.

Human Mutation, 2000

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