Varaico: Literature-Extracted Genetic Variants

Gene:ORC6
Variant:p.K238*
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ORC6

NM_014321.4:p.K238*

Associated Papers

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier-Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Li Q et al.

Orphanet Journal of Rare Diseases, 2024

[Genetic analysis of a child with Meier-Gorlin syndrome due to a variant of ORC6 gene].

Wang L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."