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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:EYA4

Variant:p.P323L

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EYA4

NM_004100.5:p.P323L

hg38:chr6:133468729 C>T

Associated Papers

A Dutch MYH7 founder mutation, p.(Asn1918Lys), is associated with early onset cardiomyopathy and congenital heart defects.

van der Linde IHM et al.

Netherlands Heart Journal : Monthly Journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation, 2017

28864942 (PubMed )

Supplement: 12471_2017_1037_MOESM2_ESM.docx

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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."