Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHH2
Variant:p.A475T
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PLEKHH2

NM_172069.4:p.A475T

Associated Papers

Missense BICD2 variants in fetuses with congenital arthrogryposis and pterygia.

Masuda L et al.

Human Genome Variation, 2024

39183348 (PubMed )
Supplement: 41439_2024_290_MOESM1_ESM.pdf

Systematic genomic and translational efficiency studies of uveal melanoma.

Johnson CP et al.

Plos One, 2017

28594900 (PubMed )
Supplement: pone.0178189.s004.xls › Sheet1
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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."