Varaico: Literature-Extracted Genetic Variants

Gene:CD68
Variant:p.A77T
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CD68

NM_001251.3:p.A77T

Associated Papers

Clinical and molecular findings in three Japanese patients with N-acetylneuraminic acid synthetase-congenital disorder of glycosylation (NANS-CDG).

Masunaga Y et al.

Scientific Reports, 2022

36224347 (PubMed )
Supplement: 41598_2022_21751_MOESM1_ESM.pdf
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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."