Varaico: Literature-Extracted Genetic Variants

Gene:RAB40AL
Variant:p.D59delins
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RAB40AL

NM_001031834.1:p.D59delins

Associated Papers

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

Ołdak M et al.

European Journal of Pediatrics, 2015

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Ołdak M et al.

Human Mutation, 2014

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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."