Varaico: Literature-Extracted Genetic Variants

Gene:EXTL3
Variant:p.Q126K
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EXTL3

NM_001440.4:p.Q126K

Associated Papers

Immune skeletal dysplasia with neurodevelopmental abnormalities caused by a novel variant of EXTL3 gene in a Chinese family.

Tian X et al.

Molecular Genetics & Genomic Medicine, 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."