Varaico: Literature-Extracted Genetic Variants

Gene:BCOR
Variant:p.K1391_V1392Splc
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BCOR

NM_001123385.2:p.K1391_V1392Splc

Associated Papers

SmMIP-tools: a computational toolset for processing and analysis of single-molecule molecular inversion probes-derived data.

Medeiros JJF et al.

Bioinformatics (oxford, England), 2022

35150236 (PubMed )
Supplement: btac081_supplementary_data.zip › Table_S4.xlsx › Clinically_reported_SNVs

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR.

Ng D et al.

Nature Genetics, 2004

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