Varaico: Literature-Extracted Genetic Variants

Gene:MOCS3
Variant:p.L109V
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MOCS3

NM_014484.5:p.L109V

Associated Papers

In utero tumor development and identification of CTNNB1 mutation in a newborn case of ossifying renal tumor of infancy.

Kasai S et al.

Pediatric Blood & Cancer, 2024

38217079 (PubMed )
Supplement: supplement_1.xlsx › SNVs

Molybdenum Cofactor Deficiency in Humans.

Johannes L et al.

Molecules (basel, Switzerland), 2022

Case Report: Compound Heterozygous Variants in MOCS3 Identified in a Chinese Infant With Molybdenum Cofactor Deficiency.

Tian Q et al.

Frontiers in Genetics, 2021

Editorial: Next Generation Sequencing (NGS) for Rare Diseases Diagnosis.

Yang XA

Frontiers in Genetics, 2021

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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."