Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.N125K
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TERT

NM_198253.3:p.N125K

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

Broadening the Genetic Spectrum of Painful Small-Fiber Neuropathy through Whole-Exome Study in Early-Onset Cases.

Misra K et al.

International Journal of Molecular Sciences, 2024

39000354 (PubMed )
Supplement: ijms-25-07248-s001.zip › supplementary_tables.xlsx › Table_S2

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ et al.

Respirology (carlton, Vic.), 2021

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