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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:COL1A1

Variant:p.G587D

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COL1A1

NM_000088.4:p.G587D

hg38:chr17:50193950 C>T

Associated Papers

Altered collagen I and premature pulmonary embryonic differentiation in patients with OI type II.

Storoni S et al.

Physiological Reports, 2023

37401248 (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."