Varaico: Literature-Extracted Genetic Variants

Gene:DYNC1H1
Variant:p.Q198K
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DYNC1H1

NM_001376.5:p.Q198K

Associated Papers

DYNC1H1-related disorders: A description of four new unrelated patients and a comprehensive review of previously reported variants.

Amabile S et al.

American Journal of Medical Genetics. Part A, 2020

Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

Antoniadi T et al.

Bmc Medical Genetics, 2015

26392352 (PubMed )
Supplement: 12881_2015_224_MOESM2_ESM.xlsx › ST2
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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."