Varaico: Literature-Extracted Genetic Variants

Gene:MOCS1
Variant:p.R222_G223ins1
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MOCS1

NM_001358530.2:p.R222_G223ins1

Associated Papers

Late-Onset Molybdenum Cofactor Deficiency Type A: A Treatable Cause of Developmental Delay.

Lund AM et al.

Pediatrics, 2024

Molybdenum cofactor deficiency: review of 12 cases (MoCD and review).

Bayram E et al.

European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2013

Molybdenum cofactor deficiency: Mutations in GPHN, MOCS1, and MOCS2.

Reiss J et al.

Human Mutation, 2011

A Turkish case with molybdenum cofactor deficiency.

Ichida K et al.

Nucleosides, Nucleotides & Nucleic Acids, 2006

[Molybdenum cofactor deficiency].

Ichida K et al.

Ryoikibetsu Shokogun Shirizu, 1998

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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."