Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.L1082P
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FANCA

NM_000135.4:p.L1082P

Associated Papers

Efficient gene editing in induced pluripotent stem cells enabled by an inducible adenine base editor with tunable expression.

Nandy K et al.

Scientific Reports, 2023

Structural basis of the fanconi anemia-associated mutations within the FANCA and FANCG complex.

Jeong E et al.

Nucleic Acids Research, 2020

[Mechanisms of genomic instability in Fanconi anemia].

Itaya A et al.

[rinsho Ketsueki] the Japanese Journal of Clinical Hematology, 2010

[Fanconi anemia].

Bessho F

Nihon Rinsho. Japanese Journal of Clinical Medicine, 2000

Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.

Yamada T et al.

Journal of Human Genetics, 2000

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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."