Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.A548T
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DYNC1H1

NM_001376.5:p.A548T

Associated Papers

Case Report: CNNM2 Mutations Cause Damaged Brain Development and Intractable Epilepsy in a Patient Without Hypomagnesemia.

Li X et al.

Frontiers in Genetics, 2021

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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."