Varaico: Literature-Extracted Genetic Variants

Gene:PLIN2
Variant:p.L72V
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PLIN2

NM_001122.4:p.L72V

Associated Papers

Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.

Airoldi M et al.

Biomolecules, 2025

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet

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

De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.

Strom SP et al.

Plos One, 2016

26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
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