Varaico: Literature-Extracted Genetic Variants

Gene:CHD7
Variant:p.P949delFs
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CHD7

NM_017780.4:p.P949delFs

Associated Papers

Impact of variation in practice in the prenatal reporting of variants of uncertain significance by commercial laboratories: Need for greater adherence to published guidelines.

Cornthwaite M et al.

Prenatal Diagnosis, 2022

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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."