Varaico: Literature-Extracted Genetic Variants

Gene:SPPL2C
Variant:p.P643R
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SPPL2C

NM_175882.3:p.P643R

Associated Papers

Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.

Saevarsdottir S et al.

Nature Communications, 2024

38982041 (PubMed )
Supplement: 41467_2024_50007_MOESM4_ESM.xlsx › SD3

Unraveling the complex role of MAPT-containing H1 and H2 haplotypes in neurodegenerative diseases.

Pedicone C et al.

Molecular Neurodegeneration, 2024

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

Moll M et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021

Screening non-MAPT genes of the Chr17q21 H1 haplotype in Parkinson's disease.

Soto-Beasley AI et al.

Parkinsonism & Related Disorders, 2020

Detection and interpretation of shared genetic influences on 42 human traits.

Pickrell JK et al.

Nature Genetics, 2016

27182965 (PubMed )
Supplement: NIHMS780506-supplement-11.pdf
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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."