Varaico: Literature-Extracted Genetic Variants

Gene:SPECC1L
Variant:p.Q415R
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SPECC1L

NM_015330.6:p.Q415R

Associated Papers

[Identification of a child with Teebi hypertelorism syndrome 1 due to variant of SPECC1L gene].

Li Z 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."