Varaico: Literature-Extracted Genetic Variants

Gene:INS
Variant:p.L7insFs
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INS

NM_000207.3:p.L7insFs

Associated Papers

Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel RAB7A Mutation and Inhibited EGFR Degradation.

Saveri P et al.

Cells, 2020

32326241 (PubMed )
Supplement: cells-09-01028-s001.zip › Table_S3.xlsx › 2449_S14_L001_annot_extract.tab

High-Density SNP genotyping defines 17 distinct haplotypes of the TNF block in the Caucasian population: implications for haplotype tagging.

Allcock RJ et al.

Human Mutation, 2004

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