Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.A100G
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SMN1

NM_000344.4:p.A100G

Associated Papers

Correlation Between Neuronal Apoptosis Inhibitory Protein (NAIP), SMN2, and SMA Phenotypes: A Tertiary Care Centre Experience From India.

Chakraborty S et al.

American Journal of Medical Genetics. Part A, 2025

Variants located in intron 6 of SMN1 lead to misdiagnosis in genetic detection and screening for SMA.

Qu Y et al.

Heliyon, 2024

Structural Context of a Critical Exon of Spinal Muscular Atrophy Gene.

Singh NN et al.

Frontiers in Molecular Biosciences, 2022

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy.

Wu X et al.

Human Molecular Genetics, 2017

A multi-exon-skipping detection assay reveals surprising diversity of splice isoforms of spinal muscular atrophy genes.

Singh NN et al.

Plos One, 2012

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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."