Varaico: Literature-Extracted Genetic Variants

Gene:PHLDA3
Variant:p.E62G
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PHLDA3

NM_012396.5:p.E62G

Associated Papers

Large-scale genome-wide association study in a Japanese population identifies novel susceptibility loci across different diseases.

Ishigaki K et al.

Nature Genetics, 2020

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

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

Global insights into keloid formation: An international systematic review of regional genetic risk factors and commonalities.

James AJ et al.

Wound Repair and Regeneration : Official Publication of the Wound Healing Society [and] the European Tissue Repair Society, 0

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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."