Varaico: Literature-Extracted Genetic Variants

Gene:SPATA31F1
Variant:p.W29C
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SPATA31F1

NM_001141917.2:p.W29C

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM3_ESM.xlsx › skeletal_muscle_without_known

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › c__Freq_TP092

Identification of NCAN as a candidate gene for developmental dyslexia.

Einarsdottir E et al.

Scientific Reports, 2017

28839234 (PubMed )
Supplement: 41598_2017_10175_MOESM3_ESM.xls › 3935-rare_exonic_variants
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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."