Varaico: Literature-Extracted Genetic Variants

Gene:FKRP
Variant:p.Y307D
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FKRP

NM_024301.5:p.Y307D

Associated Papers

Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.

Kurtovic-Kozaric A et al.

Frontiers in Genetics, 2024

39720176 (PubMed )
Supplement: Table1.xlsx › Supplementary_Table_1

Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.

Cerino M et al.

Genes, 2022

35741838 (PubMed )
Supplement: genes-13-01076-s001.zip › genes-1739915-supplementary › Supplementary_Material › Supplementary_Table_S1.pdf
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