Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.Y1803fs
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CHD7

NM_017780.4:p.Y1803fs

Associated Papers

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays.

Legendre M et al.

European Journal of Human Genetics : Ejhg, 2018

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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."