Varaico: Literature-Extracted Genetic Variants

Gene:LMOD3
Variant:p.D295fs
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LMOD3

NM_198271.5:p.D295fs

Associated Papers

Bone Quality in Patients with a Congenital Myopathy: A Scoping Review.

Bouman K et al.

Journal of Neuromuscular Diseases, 2023

36314217 (PubMed )
Supplement: jnd-10-jnd221543-s003.docx

Rapid exome sequencing: revolutionises the management of acutely unwell neonates.

Williamson SL et al.

European Journal of Pediatrics, 2021

Long-term follow-up and characteristic pathological findings in severe nemaline myopathy due to LMOD3 mutations.

Michael E et al.

Neuromuscular Disorders : Nmd, 2019

Compound Heterozygosity for Novel Truncating Variants in the LMOD3 Gene as the Cause of Polyhydramnios in Two Successive Fetuses.

Wang Y et al.

Frontiers in Genetics, 2019

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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."