Author

Amrita Mukhopadhyay

Banaras Hindu University

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Biology Disciplines

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Genetics· 1

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Ashok KumariD· 1 shared Bhagyalaxmi MohapatraiD· 1 shared Mohini GuptaiD· 1 shared

Activity by Year

2026-2026 · peak 1/yr

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3 top collaborators · 3 mutual co-author links

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1 shared paperGenetics

Ashok KumarORCID

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1 paper

Recent·Most cited

GeneticsbioRxivPreprintSep 4, 2026

Implication of a rare variant in OPA1 in Cardiac Pathophysiology: From Cristae Remodelling to Contractile Dysfunction

Mohini Gupta, Amrita Mukhopadhyay, Ashok Kumar, Bhagyalaxmi Mohapatra

The paper identifies a rare OPA1 variant linked to dilated cardiomyopathy (DCM) through whole-exome sequencing and functional analysis, showing its impact on mitochondrial dynamics and cellular health.

DOI 10.64898/2026.08.31.748193

humanwhole-exome sequencing

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