Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.D105_G106insFs
Back to variants list

SMN1

NM_000344.4:p.D105_G106insFs

Associated Papers

Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy.

Wadman RI et al.

Brain Communications, 2020

32954327 (PubMed )
Supplement: fcaa075_supplementary_data.pdf

Mutation update of spinal muscular atrophy in Spain: molecular characterization of 745 unrelated patients and identification of four novel mutations in the SMN1 gene.

Alías L et al.

Human Genetics, 2009

Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations.

Clermont O et al.

Human Mutation, 2004

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."