Varaico: Literature-Extracted Genetic Variants

Gene:HYAL1
Variant:p.V283L
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HYAL1

NM_033159.4:p.V283L

Associated Papers

The Association Between Lysosomal Storage Disorder Genes and Parkinson's Disease: A Large Cohort Study in Chinese Mainland Population.

Zhao YW et al.

Frontiers in Aging Neuroscience, 2021

34867278 (PubMed )
Supplement: Data_Sheet_1.PDF

GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Shimizu D et al.

Clinical Case Reports, 2018

30455927 (PubMed )
Supplement: CCR3-6-2229-s001.pdf

A novel somatic mutation of SIN3A detected in breast cancer by whole-exome sequencing enhances cell proliferation through ERα expression.

Watanabe K et al.

Scientific Reports, 2018

30375428 (PubMed )
Supplement: 41598_2018_34290_MOESM5_ESM.xlsx › 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."