Varaico: Literature-Extracted Genetic Variants

Gene:CCDC6
Variant:p.L163F
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CCDC6

NM_005436.5:p.L163F

Associated Papers

Determination of Autosomal Dominant or Recessive Methionine Adenosyltransferase I/III Deficiencies Based on Clinical and Molecular Studies.

Kim YM et al.

Molecular Medicine (cambridge, Mass.), 2016

Mutations in holoprosencephaly.

Wallis D et al.

Human Mutation, 2000

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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."