Varaico: Literature-Extracted Genetic Variants

Gene:TFCP2L1
Variant:p.I418I
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TFCP2L1

NM_014553.3:p.I418I

Associated Papers

The cytidine deaminase APOBEC3A regulates nucleolar function to promote cell growth and ribosome biogenesis.

McCool MA et al.

Plos Biology, 2024

38976757 (PubMed )
Supplement: pbio.3002718.s019.xlsx › Data_G_nuclear_variants

TBX1 mutation identified by exome sequencing in a Japanese family with 22q11.2 deletion syndrome-like craniofacial features and hypocalcemia.

Ogata T et al.

Plos One, 2014

24637876 (PubMed )
Supplement: pone.0091598.s006.pdf
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