Varaico: Literature-Extracted Genetic Variants

Gene:FH
Variant:p.Q142*
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FH

NM_000143.4:p.Q142*

Associated Papers

Prime editing-installed suppressor tRNAs for disease-agnostic genome editing.

Pierce SE et al.

Nature, 2025

41261131 (PubMed )
Supplement: 41586_2025_9732_MOESM17_ESM.xlsx › Sequence_Context_Screen

Phase separation as a possible mechanism for dosage sensitivity.

Yang L et al.

Genome Biology, 2024

38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations

Aryl hydrocarbon receptor-interacting protein and acromegaly.

Aaltonen LA

Hormone Research, 2007

Missense mutations in fumarate hydratase in multiple cutaneous and uterine leiomyomatosis and renal cell cancer.

Alam NA et al.

The Journal of Molecular Diagnostics : Jmd, 2005

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer.

Chan I et al.

Clinical and Experimental Dermatology, 2005

Biologic lessons from mutations in the Kreb's cycle enzyme, fumarate hydratase.

McGrath JA

The Journal of Investigative Dermatology, 2003

Germline fumarate hydratase mutations in families with multiple cutaneous and uterine leiomyomata.

Martinez-Mir A et al.

The Journal of Investigative Dermatology, 2003

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."