Varaico: Literature-Extracted Genetic Variants

Gene:MTCH2
Variant:p.Y23H
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MTCH2

NM_014342.4:p.Y23H

Associated Papers

Identification of Rare Variants Involved in High Myopia Unraveled by Whole Genome Sequencing.

Haarman AEG et al.

Ophthalmology Science, 2023

37250922 (PubMed )
Supplement: mmc5.pdf

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__2.xlsx › _2

Deep genomic analysis of malignant peripheral nerve sheath tumor cell lines challenges current malignant peripheral nerve sheath tumor diagnosis.

Magallón-Lorenz M et al.

Iscience, 2023

36818284 (PubMed )
Supplement: mmc2.xlsx › HS-Sch-2

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s009.xlsx › Blad1

Genetic mechanisms of HLA-I loss and immune escape in diffuse large B cell lymphoma.

Fangazio M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34050029 (PubMed )
Supplement: pnas.2104504118.sd06.xlsx › Table_S6

Exome sequencing identifies a novel missense variant in RRM2B associated with autosomal recessive progressive external ophthalmoplegia.

Takata A et al.

Genome Biology, 2011

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