Varaico: Literature-Extracted Genetic Variants

Gene:CNP
Variant:p.Y278C
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CNP

NM_033133.5:p.Y278C

Associated Papers

Review of published 467 achondroplasia patients: clinical and mutational spectrum.

Zhang X et al.

Orphanet Journal of Rare Diseases, 2024

Earlier detection of hypochondroplasia: A large single-center UK case series and systematic review.

Sabir AH et al.

American Journal of Medical Genetics. Part A, 2021

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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."