Varaico: Literature-Extracted Genetic Variants

Gene:KAT6A
Variant:p.P1967R
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KAT6A

NM_006766.5:p.P1967R

Associated Papers

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome.

Rivière JB et al.

Nature Genetics, 2012

22366783 (PubMed )
Supplement: NIHMS474071-supplement-1.pdf
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."