Varaico: Literature-Extracted Genetic Variants

Gene:FANCA
Variant:p.R951G
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FANCA

NM_000135.4:p.R951G

Associated Papers

Next-generation Sequencing in Bone Marrow Failure Syndromes and Isolated Cytopenias: Experience of the Spanish Network on Bone Marrow Failure Syndromes.

Gálvez E et al.

Hemasphere, 2021

33718801 (PubMed )
Supplement: hs9-5-e539-s001.docx

Optimised molecular genetic diagnostics of Fanconi anaemia by whole exome sequencing and functional studies.

Bogliolo M et al.

Journal of Medical Genetics, 2020

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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."