Varaico: Literature-Extracted Genetic Variants

Gene:DNAI2
Variant:p.P82L
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DNAI2

NM_023036.6:p.P82L

Associated Papers

Tribal Founder EMC1 Variant in 5 Kuwaiti Families Expands Phenotypic Spectrum of EMC1-Related Disorder.

Alzayed NT et al.

Neurology. Genetics, 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."