Varaico: Literature-Extracted Genetic Variants

Gene:LARP7
Variant:p.R143_V144delFs
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LARP7

NM_016648.4:p.R143_V144delFs

Associated Papers

[Clinical and genetic analysis of a child with Alazami syndrome due to compound heterozygous variants of LARP7 gene].

Yuan 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."