Varaico: Literature-Extracted Genetic Variants

Gene:RPSA
Variant:p.A21P
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RPSA

NM_002295.6:p.A21P

Associated Papers

Mutations in RPSA and NKX2-3 link development of the spleen and intestinal vasculature.

Kerkhofs C et al.

Human Mutation, 2020

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.

Bolze A et al.

Proceedings of the National Academy of Sciences of the United States of America, 2018

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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."