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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:DYNC1H1

Variant:p.T3787_T3796del0

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DYNC1H1

NM_001376.5:p.T3787_T3796del0

hg38:chr14:102039148 AGGAGACGGACATTGTCATGCAGGAGGT>A

Associated Papers

Novel DSP Spectrin 6 Region Variant Causes Neonatal Erythroderma, Failure to Thrive, Severe Herpes Simplex Infections and Brain Lesions.

Vakkilainen S et al.

Acta Dermato-venereologica, 2019

31037311 (PubMed )

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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."