Varaico: Literature-Extracted Genetic Variants

Gene:RALGDS
Variant:p.L137F
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RALGDS

NM_006266.4:p.L137F

Associated Papers

Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.

Haghighi A et al.

Orphanet Journal of Rare Diseases, 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."