Varaico: Literature-Extracted Genetic Variants

Gene:DEAF1
Variant:p.Q230E
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DEAF1

NM_021008.4:p.Q230E

Associated Papers

Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Mullegama SV et al.

Clinical Case Reports, 2017

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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."