Article

Whole exome sequencing of adult Indians with apparently acquired Aplastic Anemia: initial experience at tertiary care hospital

2023-05-04

Abstract excerpt

Aplastic anaemia (AA) is a rare hypocellular bone marrow disease which can be acquired or constitutional. Nearly 10-30% patients with apparently acquired AA have mutations in telomerase reverse transcriptase gene (TERT) leading to bone marrow failure. The TERT plays a crucial role in regulating the telomerase ribonucleoprotein complex which otherwise causes short telomeres leading to AA. We used our benchmarked wh...

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Literature Corpus work: 68f04b31-0580-5c75-be78-fee91f1b726f
DOI: 10.21203/rs.3.rs-2836149/v1

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