Varaico: Literature-Extracted Genetic Variants

Gene:SMN1
Variant:p.M3L
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SMN1

NM_000344.4:p.M3L

Associated Papers

High-throughput analysis revealed mutations' diverging effects on SMN1 exon 7 splicing.

Souček P et al.

Rna Biology, 2019

31213135 (PubMed )
Supplement: supplement_1.zip › Supplementary_information › supplementary_table1.xlsx › SNV_statistics

Survival motor neuron (SMN) polymorphism in relation to congenital arthrogryposis in two Piedmont calves (piemontese).

Longeri M et al.

Genetics, Selection, Evolution : Gse, 2003

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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."