Varaico: Literature-Extracted Genetic Variants

Gene:FAM111B
Variant:p.F629S
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FAM111B

NM_198947.4:p.F629S

Associated Papers

Hereditary fibrosing poikiloderma (POIKTMP syndrome) report of a new mutation and review of the literature.

Hoeger PH et al.

Pediatric Dermatology, 2023

Loss of FAM111B protease mutated in hereditary fibrosing poikiloderma negatively regulates telomere length.

Kliszczak M et al.

Frontiers in Cell and Developmental Biology, 2023

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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."