Varaico: Literature-Extracted Genetic Variants

Gene:PDPR
Variant:p.R142C
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PDPR

NM_017990.5:p.R142C

Associated Papers

Whole genome sequencing identifies candidate genes for familial essential tremor and reveals biological pathways implicated in essential tremor aetiology.

Clark LN et al.

Ebiomedicine, 2022

36183486 (PubMed )
Supplement: mmc1.xlsx › RV_NPL_per_family

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle
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