Varaico: Literature-Extracted Genetic Variants

Gene:MUC17
Variant:p.T1855I
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MUC17

NM_001040105.2:p.T1855I

Associated Papers

The genetic landscape of autism spectrum disorder in an ancestrally diverse cohort.

Gogate A et al.

Npj Genomic Medicine, 2024

39632905 (PubMed )
Supplement: 41525_2024_444_MOESM2_ESM.xlsx › Supplementary_Data_5

Molecular networks of hepatoblastoma predisposition and oncogenesis in Beckwith-Wiedemann syndrome.

Sobel Naveh NS et al.

Hepatology Communications, 2022

35507738 (PubMed )
Supplement: HEP4-6-2132-s005.xlsx › Supplemental_Table_1.

A recurrent de novo missense mutation in UBTF causes developmental neuroregression.

Toro C et al.

Human Molecular Genetics, 2018

29300972 (PubMed )
Supplement: supplementary_material_ddx435.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."