Varaico: Literature-Extracted Genetic Variants

Gene:AHNAK2
Variant:p.V2061L
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AHNAK2

NM_138420.4:p.V2061L

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table3.XLSX › Sheet1

Phenotypic plasticity and genetic control in colorectal cancer evolution.

Househam J et al.

Nature, 2022

36289336 (PubMed )
Supplement: 41586_2022_5311_MOESM9_ESM.xlsx › Fig._2c

Frequent FOXA1-Activating Mutations in Extramammary Paget's Disease.

Takeichi T et al.

Cancers, 2020

32235312 (PubMed )
Supplement: cancers-12-00820-s001.pdf

Aggressive natural killer-cell leukemia mutational landscape and drug profiling highlight JAK-STAT signaling as therapeutic target.

Dufva O et al.

Nature Communications, 2018

29674644 (PubMed )
Supplement: 41467_2018_3987_MOESM6_ESM.xlsx › NKTCL_L04
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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."