Varaico: Literature-Extracted Genetic Variants

Gene:LAMA5
Variant:p.V3610Splc
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LAMA5

NM_005560.6:p.V3610Splc

Associated Papers

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.

Raaz C et al.

Case Reports in Genetics, 2026

Recessive LAMA5 Variants Associated With Partial Epilepsy and Spasms in Infancy.

Luo S et al.

Frontiers in Molecular Neuroscience, 2022

Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.

Han JY et al.

Frontiers in Pediatrics, 2018

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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."