Varaico: Literature-Extracted Genetic Variants

Gene:MYO1H
Variant:p.L350*
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MYO1H

NM_001101421.4:p.L350*

Associated Papers

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.

Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders.

van Schouwenburg PA et al.

Clinical Immunology (orlando, Fla.), 2015

26122175 (PubMed )
Supplement: NIHMS64345-supplement-Supplementary_tables.xlsx › Table_S10

Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.

Sirrs S et al.

Orphanet Journal of Rare Diseases, 2015

25885783 (PubMed )
Supplement: 13023_2015_248_MOESM1_ESM.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."