Varaico: Literature-Extracted Genetic Variants

Gene:ANKRD11
Variant:p.P2059H
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ANKRD11

NM_013275.6:p.P2059H

Associated Papers

Exploring multi-omics and clinical characteristics linked to accelerated biological aging in Asian women of reproductive age: insights from the S-PRESTO study.

Chen L et al.

Genome Medicine, 2024

39516835 (PubMed )
Supplement: 13073_2024_1403_MOESM3_ESM.xlsx › Table_S4B

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Identifying rare genetic variants in 21 highly multiplex autism families: the role of diagnosis and autistic traits.

More RP et al.

Molecular Psychiatry, 2023

KBG syndrome: videoconferencing and use of artificial intelligence driven facial phenotyping in 25 new patients.

Guo L et al.

European Journal of Human Genetics : Ejhg, 2022

35970914 (PubMed )
Supplement: 41431_2022_1171_MOESM3_ESM.xlsx › clinvar_20220413.list3.hg19_mul

Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.

Terhune EA et al.

Genes, 2021

34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf

A novel in-frame mutation in CLN3 leads to Juvenile neuronal ceroid lipofuscinosis in a large Pakistani family.

Sher M et al.

The International Journal of Neuroscience, 2019

30892110 (PubMed )
Supplement: supplement_1.xlsx › _Variants_305__Sequence_Ontolo
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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."