Varaico: Literature-Extracted Genetic Variants

Gene:PAX3
Variant:p.Q200_S201delFs
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PAX3

NM_181458.4:p.Q200_S201delFs

Associated Papers

Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.

Sheppard S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29907799 (PubMed )
Supplement: 41436_2018_4_MOESM3_ESM.xlsx › variant-_capture___coverage

Neural tube defects in Waardenburg syndrome: A case report and review of the literature.

Hart J et al.

American Journal of Medical Genetics. Part A, 2017

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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."