Varaico: Literature-Extracted Genetic Variants

Gene:SRSF12
Variant:p.R119del1
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SRSF12

NM_080743.5:p.R119del1

Associated Papers

Whole-exome sequencing in patients with protein aggregate myopathies reveals causative mutations associated with novel atypical phenotypes.

Machnicki MM et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

33170376 (PubMed )
Supplement: 10072_2020_4876_MOESM3_ESM.xlsx › variants

Germline variants in the SEMA4A gene predispose to familial colorectal cancer type X.

Schulz E et al.

Nature Communications, 2014

25307848 (PubMed )
Supplement: ncomms6191-s1.pdf
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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."