Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.I1086R
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DYNC1H1

NM_001376.5:p.I1086R

Associated Papers

[Analysis of 4 children with DYNC1H1 gene related spinal muscular atrophy with lower extremity predominant 1].

Yang CJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2023

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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."