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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CHD4

Variant:p.M1030_E1031Splc

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CHD4

NM_001273.5:p.M1030_E1031Splc

hg38:chr12:6591915 C>T

Associated Papers

37th Annual David W. Smith Workshop on Malformations and Morphogenesis: Abstracts of the 2016 Annual Meeting.

Keppler-Noreuil KM et al.

American Journal of Medical Genetics. Part A, 2017

28544249 (PubMed )

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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."