Varaico: Literature-Extracted Genetic Variants

Gene:MFAP1
Variant:p.E68K
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MFAP1

NM_005926.3:p.E68K

Associated Papers

Uncovering common genetic risk factors in migraine and epilepsy through whole exome sequencing.

Sahu P et al.

Epileptic Disorders : International Epilepsy Journal With Videotape, 2025

Exome sequencing of families from Ghana reveals known and candidate hearing impairment genes.

Wonkam A et al.

Communications Biology, 2022

RAD51D Aberrant Splicing in Breast Cancer: Identification of Splicing Regulatory Elements and Minigene-Based Evaluation of 53 DNA Variants.

Bueno-Martínez E et al.

Cancers, 2021

34200360 (PubMed )
Supplement: cancers-13-02845-s001.zip › cancers-1205645-supplementary.pdf

Determination of residues important in hormone binding to the extracellular domain of the luteinizing hormone/chorionic gonadotropin receptor by site-directed mutagenesis and modeling.

Bhowmick N et al.

Molecular Endocrinology (baltimore, Md.), 1996

Identification of two amino acid residues on the extracellular domain of the lutropin/choriogonadotropin receptor important in signaling.

Huang J et al.

The Journal of Biological Chemistry, 1995

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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."