Varaico: Literature-Extracted Genetic Variants

Gene:HRNR
Variant:p.G1127S
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HRNR

NM_001009931.3:p.G1127S

Associated Papers

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Elife, 2024

38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants

MSeqDR Quick-Mitome (QM): Combining Phenotype-Guided Variant Interpretation and Machine Learning Classifiers to Aid Primary Mitochondrial Disease Genetic Diagnosis.

Shen L et al.

Current Protocols, 2024

Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.

Yu H et al.

Biorxiv : the Preprint Server for Biology, 2023

37292598 (PubMed )
Supplement: media-1.xlsx › Variants
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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."