Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.A45V
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FKRP

NM_024301.5:p.A45V

Associated Papers

Somatic Mutations Profile of a Young Patient With Metastatic Urothelial Carcinoma Reveals Mutations in Genes Involved in Ion Channels.

Sharma J et al.

Frontiers in Oncology, 2019

31192134 (PubMed )
Supplement: Table_1.XLSX › Exonic

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_MOESM2_ESM.xlsx › individual
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