Varaico: Literature-Extracted Genetic Variants

Gene:PARN
Variant:p.G70_F74delFs
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PARN

NM_002582.4:p.G70_F74delFs

Associated Papers

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

Molecular basis of telomere dysfunction in human genetic diseases.

Sarek G et al.

Nature Structural & Molecular Biology, 2015

Poly(A)-specific ribonuclease deficiency impacts telomere biology and causes dyskeratosis congenita.

Tummala H et al.

The Journal of Clinical Investigation, 2015

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