Varaico: Literature-Extracted Genetic Variants

Gene:RABL6
Variant:p.A562P
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RABL6

NM_024718.5:p.A562P

Associated Papers

Role of reverse phenotyping in interpretation of next generation sequencing data and a review of INPP5E related disorders.

de Goede C et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2016

Genetics of recessive cognitive disorders.

Musante L et al.

Trends in Genetics : Tig, 2014

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.

Najmabadi H et al.

Nature, 2011

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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."