Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHN1
Variant:p.E319G
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PLEKHN1

NM_032129.3:p.E319G

Associated Papers

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )
Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14

Recurrent GNAQ mutation encoding T96S in natural killer/T cell lymphoma.

Li Z et al.

Nature Communications, 2019

31527657 (PubMed )
Supplement: 41467_2019_12032_MOESM1_ESM.pdf

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants
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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."