Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.G1282delFs
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SETD5

NM_001080517.3:p.G1282delFs

Associated Papers

De novo SETD5 loss-of-function variant as a cause for intellectual disability in a 10-year old boy with an aberrant blind ending bronchus.

Green C 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."