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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GDF5

Variant:p.R377_R378insFs

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GDF5

NM_000557.5:p.R377_R378insFs

hg38:chr20:35434284 C>CG

Associated Papers

Pseudohypoparathyroidism: Focus on Cerebral and Renal Calcifications.

Mazoni L et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

33780542 (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."