Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.R304W
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CHST3

NM_004273.5:p.R304W

Associated Papers

CHST3-related skeletal dysplasia in 14 patients: Identification of 8 novel variants and further expansion of the phenotypic spectrum.

Otaify GA et al.

American Journal of Medical Genetics. Part A, 2023

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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."