Varaico: Literature-Extracted Genetic Variants

Gene:TPSAB1
Variant:p.R28Q
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TPSAB1

NM_003294.4:p.R28Q

Associated Papers

Multi-omics comparison of malignant and normal uveal melanocytes reveals molecular features of uveal melanoma.

Gentien D et al.

Cell Reports, 2023

37708024 (PubMed )
Supplement: NIHMS1933915-supplement-2.xlsx › Supp_table_1

Whole-exome sequencing of epithelial ovarian carcinomas differing in resistance to platinum therapy.

Hlaváč V et al.

Life Science Alliance, 2022

36229065 (PubMed )
Supplement: LSA-2022-01551_TableS16.xlsx › Table_S16

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

A G613A missense in the Hutchinson's progeria lamin A/C gene causes a lone, autosomal dominant atrioventricular block.

Villa F et al.

Immunity & Ageing : I & A, 2014

25469153 (PubMed )
Supplement: 12979_2014_19_MOESM2_ESM.xls › Sheet1
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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."