Varaico: Literature-Extracted Genetic Variants

Gene:MISP3
Variant:p.R164S
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MISP3

NM_001291291.2:p.R164S

Associated Papers

Whole Exome Sequencing Is the Minimal Technological Approach in Probands Born to Consanguineous Couples.

Peluso F et al.

Genes, 2021

34202629 (PubMed )
Supplement: genes-12-00962-s001.zip › genes-1252885-supplementary › Table_S1_Table_S2_-_Case_2_WES_analysis_VER2.pdf

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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