Varaico: Literature-Extracted Genetic Variants

Gene:RECQL4
Variant:p.R76H
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RECQL4

NM_004260.4:p.R76H

Associated Papers

Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.

Averdunk L et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023

Rothmund-Thomson syndrome, a disorder far from solved.

Martins DJ et al.

Frontiers in Aging, 2023

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