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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD7

Variant:p.D1065E

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CHD7

NM_017780.4:p.D1065E

hg38:chr8:60822740 T>A

Associated Papers

CHD7 deficiency in "Looper", a new mouse model of CHARGE syndrome, results in ossicle malformation, otosclerosis and hearing impairment.

Ogier JM et al.

Plos One, 2014

24840056 (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."