Varaico: Literature-Extracted Genetic Variants

Gene:APC
Variant:p.H286_T288del3
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APC

NM_000038.6:p.H286_T288del3

Associated Papers

Targeted deep sequencing of DNA from multiple tissue types improves the diagnostic rate and reveals a highly diverse phenotype of mosaic neurofibromatosis type 2.

Teranishi Y et al.

Journal of Medical 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."