Varaico: Literature-Extracted Genetic Variants

Gene:RAPSN
Variant:p.K12delins
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RAPSN

NM_005055.5:p.K12delins

Associated Papers

Neonatal lethal Costello syndrome and unusual dinucleotide deletion/insertion mutations in HRAS predicting p.Gly12Val.

Burkitt-Wright EM et al.

American Journal of Medical Genetics. Part A, 2012

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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."