Varaico: Literature-Extracted Genetic Variants

Gene:MPZL2
Variant:p.R139W
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MPZL2

NM_005797.4:p.R139W

Associated Papers

Identification and characterization of short-chain dehydrogenase/reductase 3 (DHRS3) deficiency, a retinoic acid embryopathy of humans.

Hashimoto AS et al.

Genetics in Medicine Open, 2025

40519748 (PubMed )
Supplement: mmc1.pdf

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_3

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."