Varaico: Literature-Extracted Genetic Variants

Gene:CHST3
Variant:p.L294P
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CHST3

NM_004273.5:p.L294P

Associated Papers

A Chinese case of CHST3-related skeletal dysplasia and a systematic review.

Liang H et al.

Endocrine, 2023

Recurrent c.776T>C mutation in CHST3 with four other novel mutations and a literature review.

Duz MB et al.

Clinical Dysmorphology, 2020

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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."