Varaico: Literature-Extracted Genetic Variants

Gene:DNAH2
Variant:p.S883L
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DNAH2

NM_020877.5:p.S883L

Associated Papers

Genetic Defects in DNAH2 Underlie Male Infertility With Multiple Morphological Abnormalities of the Sperm Flagella in Humans and Mice.

Hwang JY et al.

Frontiers in Cell and Developmental Biology, 2021

33968937 (PubMed )
Supplement: Table_3.XLSX › Sheet1

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16

A whole-genome sequence and transcriptome perspective on HER2-positive breast cancers.

Ferrari A et al.

Nature Communications, 2016

27406316 (PubMed )
Supplement: ncomms12222-s3.xlsx › genetab.txt
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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."