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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELFN1

Variant:p.R316C

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ELFN1

NM_001128636.4:p.R316C

hg38:chr7:1745542 C>T

Associated Papers

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Dawidziuk M et al.

Genes, 2021

34946966 (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."