Varaico: Literature-Extracted Genetic Variants

Gene:CHRNG
Variant:p.L265fs
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CHRNG

NM_005199.5:p.L265fs

Associated Papers

Arthrogryposis is a descriptive term, not a specific disease entity: Escobar Syndrome is an example.

Al Kaissi A et al.

Minerva Pediatrics, 2024

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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."