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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CEP170

Variant:p.K1136_P1137del1

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CEP170

NM_014812.3:p.K1136_P1137del1

hg38:chr1:243164550 GGTT>G

Associated Papers

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Zamanian Najafabadi S et al.

Archives of Iranian Medicine, 2025

40751525 (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."