Varaico: Literature-Extracted Genetic Variants

Gene:PLD4
Variant:p.G368S
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PLD4

NM_138790.5:p.G368S

Associated Papers

Structural and mechanistic insights into disease-associated endolysosomal exonucleases PLD3 and PLD4.

Yuan M et al.

Structure (london, England : 1993), 2024

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.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."