Varaico: Literature-Extracted Genetic Variants

Gene:OR13C8
Variant:p.V92L
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OR13C8

NM_001004483.1:p.V92L

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

A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates SESN2 Expression Through POU2F1.

Yang W et al.

Frontiers in Cell and Developmental Biology, 2021

34249922 (PubMed )
Supplement: Table_1.xls › MQ1-2-3
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