Varaico: Literature-Extracted Genetic Variants

Gene:TIMM50
Variant:p.D121V
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TIMM50

NM_001001563.5:p.D121V

Associated Papers

Germline variants in UHRF1 are associated with multilocus imprinting disturbance in humans and mice.

Ochoa E et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

40825131 (PubMed )
Supplement: pnas.2505884122.sd01.xlsx › Sheet1
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