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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:INSR

Variant:p.P13_L21del0

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INSR

NM_000208.4:p.P13_L21del0

hg38:chr19:7293830 AGCGCGGCCACCGCCACCAGCAGCG>A

Associated Papers

Hereditary Severe Insulin-resistance Syndrome and Acanthosis Nigricans Caused by Novel Mutations in the INSR Gene.

Chongyang C et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

38952179 (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."