Varaico: Literature-Extracted Genetic Variants

Gene:MPDZ
Variant:p.K799E
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MPDZ

NM_001378778.1:p.K799E

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g

Rare, potentially pathogenic variants in 21 keratoconus candidate genes are not enriched in cases in a large Australian cohort of European descent.

Lucas SEM et al.

Plos One, 2018

29924831 (PubMed )
Supplement: pone.0199178.s003.xlsx › Sheet1

Sequence variations of the human MPDZ gene and association with alcoholism in subjects with European ancestry.

Karpyak VM et al.

Alcoholism, Clinical and Experimental Research, 2009

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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."