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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GCC2

Variant:p.K1150_D1151Splc

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GCC2

NM_181453.4:p.K1150_D1151Splc

hg38:chr2:108484145 G>T

Associated Papers

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.

Reilly ML et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

35748595 (PubMed )

Supplement: JBMR-37-1642-s001.pdf

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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."