Varaico: Literature-Extracted Genetic Variants

Gene:RAP1A
Variant:p.R163T
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RAP1A

NM_002884.4:p.R163T

Associated Papers

Unraveling molecular pathways shared by Kabuki and Kabuki-like syndromes.

Lintas C et al.

Clinical Genetics, 2018

RAP1-mediated MEK/ERK pathway defects in Kabuki syndrome.

Bögershausen N et al.

The Journal of Clinical Investigation, 2015

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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."