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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL4A1

Variant:p.S402S

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COL4A1

NM_001845.6:p.S402S

hg38:chr13:110198546 A>T

Associated Papers

Exploring the diagnostic utility of genome sequencing for fetal congenital heart defects.

Cao Y et al.

Prenatal Diagnosis, 2022

35441720 (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."