Varaico: Literature-Extracted Genetic Variants

Gene:DNAH2
Variant:p.R837C
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DNAH2

NM_020877.5:p.R837C

Associated Papers

Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations.

Lefebvre M et al.

Journal of Medical Genetics, 2021

Age-related mutations and chronic myelomonocytic leukemia.

Mason CC et al.

Leukemia, 2016

26648538 (PubMed )
Supplement: 41375_2016_BFleu2015337_MOESM120_ESM.xlsx › ST10
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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."