Varaico: Literature-Extracted Genetic Variants

Gene:LRMDA
Variant:p.L160F
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LRMDA

NM_001305581.2:p.L160F

Associated Papers

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

O'Gorman L et al.

Scientific Reports, 2019

31519934 (PubMed )
Supplement: 41598_2019_49368_MOESM1_ESM.pdf
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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."