Varaico: Literature-Extracted Genetic Variants

Gene:SIGLEC12
Variant:p.R92*
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SIGLEC12

NM_053003.4:p.R92*

Associated Papers

Somatic mutations and T-cell clonality in patients with immunodeficiency.

Savola P et al.

Haematologica, 2020

33256375 (PubMed )
Supplement: 2019_220889_SAVOLA_SUPPL.pdf

Human primary liver cancer-derived organoid cultures for disease modeling and drug screening.

Broutier L et al.

Nature Medicine, 2017

29131160 (PubMed )
Supplement: NIHMS74480-supplement-Supplementary_Dataset_4.xlsx › S13_CC-3_coding_SNVs

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 838.321
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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."