Varaico: Literature-Extracted Genetic Variants

Gene:CHRNG
Variant:p.N40fs
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CHRNG

NM_005199.5:p.N40fs

Associated Papers

A Truncating Variant of CHRNG as a Cause of Escobar Syndrome: A Multiple Pterygium Syndrome Subtype.

Sandweiss AJ et al.

Journal of Pediatric Genetics, 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."