Varaico: Literature-Extracted Genetic Variants

Gene:GEMIN5
Variant:p.L902Q
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GEMIN5

NM_015465.5:p.L902Q

Associated Papers

Expanding the clinical phenotype and genetic spectrum of GEMIN5 disorders: Early-infantile developmental and epileptic encephalopathies.

Zhang J et al.

Brain and Behavior, 2024

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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."