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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADA

Variant:p.G74R

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ADA

NM_000022.4:p.G74R

hg38:chr20:44626598 C>G

Associated Papers

Genetics of inherited thrombocytopenias.

Warren JT et al.

Blood, 2022

35167650 (PubMed )

Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype.

Parrella S et al.

Pediatric Blood & Cancer, 2014

24453067 (PubMed )

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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."