Varaico: Literature-Extracted Genetic Variants

Gene:PLG
Variant:p.D249Y
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PLG

NM_000301.5:p.D249Y

Associated Papers

Genetic Landscape of Non-Remitting Neutropenia in Children and Chronic Idiopathic Neutropenia in Adults.

Grossi A et al.

International Journal of Molecular Sciences, 2025

40725177 (PubMed )
Supplement: ijms-26-06929-s001.zip › ijms-3724192-supplementary.xlsx › Supplementary_Table3

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report.

Zlotina A et al.

Bmc Medical Genomics, 2020

33218365 (PubMed )
Supplement: 12920_2020_821_MOESM1_ESM.xlsx › Sheet_1
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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."