Varaico: Literature-Extracted Genetic Variants

Gene:SPTBN2
Variant:p.S315L
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SPTBN2

NM_006946.4:p.S315L

Associated Papers

Systematic analysis of inheritance pattern determination in genes that cause rare neurodevelopmental diseases.

Park S et al.

Frontiers in Genetics, 2022

36212160 (PubMed )
Supplement: DataSheet2.xlsx › Table_S2

Genomic characterization of Chinese ovarian clear cell carcinoma identifies driver genes by whole exome sequencing.

Yang Q et al.

Neoplasia (new York, N.y.), 2020

Comprehensive Genetic Analysis of a Hungarian Amyotrophic Lateral Sclerosis Cohort.

Tripolszki K et al.

Frontiers in Genetics, 2019

31475037 (PubMed )
Supplement: DataSheet_1.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."