Varaico: Literature-Extracted Genetic Variants

Gene:CCDC160
Variant:p.R53G
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CCDC160

NM_001353453.3:p.R53G

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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