Varaico: Literature-Extracted Genetic Variants

Gene:TRIP11
Variant:p.E1478delFs
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TRIP11

NM_004239.4:p.E1478delFs

Associated Papers

Towards solving the genetic diagnosis odyssey in Iranian patients with congenital anomalies.

Vaseghi P et al.

European Journal of Human Genetics : Ejhg, 2024

The challenges in the interpretation of genetic variants detected by genomics techniques in patients with congenital anomalies.

Vaseghi H et al.

Journal of Clinical Laboratory Analysis, 2023

LOF variants identifying candidate genes of laterality defects patients with congenital heart disease.

Liu S et al.

Plos Genetics, 2022

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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."