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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ITGA3

Variant:p.E608_V609Splc

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ITGA3

NM_002204.4:p.E608_V609Splc

hg38:chr17:50076583 G>A

Associated Papers

A novel ITGA3 homozygous splice mutation in an ILNEB syndrome child with slow progression.

Liu Y et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

34751145 (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."