Varaico: Literature-Extracted Genetic Variants

Gene:EPB41L4A
Variant:p.M508T
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EPB41L4A

NM_022140.5:p.M508T

Associated Papers

Recessive genetic contribution to congenital heart disease in 5,424 probands.

Dong W et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40030011 (PubMed )
Supplement: pnas.2419992122.sd02.xlsx › Dataset_S2_-_RGs

Integrated genomic analysis reveals mutated ELF3 as a potential gallbladder cancer vaccine candidate.

Pandey A et al.

Nature Communications, 2020

32839463 (PubMed )
Supplement: 41467_2020_17880_MOESM6_ESM.xlsx › Unpaired_Mutations_GBC
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