Varaico: Literature-Extracted Genetic Variants

Gene:HADH
Variant:p.F92C
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HADH

NM_005327.7:p.F92C

Associated Papers

Chemoproteogenomic stratification of the missense variant cysteinome.

Desai H et al.

Nature Communications, 2024

Accurate phenotypic classification and exome sequencing allow identification of novel genes and variants associated with adult-onset hearing loss.

Lewis MA et al.

Plos Genetics, 2023

Multi-omic stratification of the missense variant cysteinome.

Desai H et al.

Biorxiv : the Preprint Server for Biology, 2023

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat8
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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."