Varaico: Literature-Extracted Genetic Variants

Gene:EFCAB5
Variant:p.L237V
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EFCAB5

NM_198529.4:p.L237V

Associated Papers

An integrative framework to prioritize genes in more than 500 loci associated with body mass index.

Hemerich D et al.

American Journal of Human Genetics, 2024

38754426 (PubMed )
Supplement: mmc2.xlsx › Table_S3

Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa.

Boukhalfa W et al.

Frontiers in Aging Neuroscience, 2023

37342358 (PubMed )
Supplement: Table_2.XLSX › Table_2_SNPnexus_annotation

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease.

Moll M et al.

American Journal of Physiology. Lung Cellular and Molecular Physiology, 2021

Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.

Wolff RK et al.

Genes, Chromosomes & Cancer, 2018

29575536 (PubMed )
Supplement: GCC-57-366-s006.xlsx › Validation_Mutations

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."