Varaico: Literature-Extracted Genetic Variants

Gene:COL1A1
Variant:p.D760E
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COL1A1

NM_000088.4:p.D760E

Associated Papers

Germline Mutations Related to Primary Hyperparathyroidism Identified by Next-Generation Sequencing.

Park HS et al.

Frontiers in Endocrinology, 2022

MBASED: allele-specific expression detection in cancer tissues and cell lines.

Mayba O et al.

Genome Biology, 2014

25315065 (PubMed )
Supplement: 13059_2014_405_MOESM3_ESM.xlsx › FunctionalSomaticMutations
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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."