Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHA7
Variant:p.P862L
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PLEKHA7

NM_001329630.2:p.P862L

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

Identification of potential modifier genes in Chinese patients with Wilson disease.

Zhou D et al.

Metallomics : Integrated Biometal Science, 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."