Varaico: Literature-Extracted Genetic Variants

Gene:CDKAL1
Variant:p.P409L
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CDKAL1

NM_017774.3:p.P409L

Associated Papers

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Farooq S et al.

Frontiers in Genetics, 2025

41555927 (PubMed )
Supplement: Table1.xlsx › Family_2_WDR62

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Identification of genetic risk variants for Type-2 Diabetes mellitus in Pakistani Pashtun population: A case-control association study.

Jan A et al.

Pakistan Journal of Medical Sciences, 2024

Genomic and transcriptomic analysis of breast cancer identifies novel signatures associated with response to neoadjuvant chemotherapy.

Yin G et al.

Genome Medicine, 2024

Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.

Jan A et al.

Journal of the Asean Federation of Endocrine Societies, 2023

Association of HLA-B Gene Polymorphisms with Type 2 Diabetes in Pashtun Ethnic Population of Khyber Pakhtunkhwa, Pakistan.

Jan A et al.

Journal of Diabetes Research, 2021

34258292 (PubMed )
Supplement: 6669731.f1.zip › 6669731.f1 › 6669731.f1.pdf

Association of CDKAL1 Polymorphisms with Early-Onset Atopic Dermatitis in Koreans.

Heo WI et al.

Annals of Dermatology, 2018

CDKAL1 gene variants affect the anti-TNF response among Psoriasis patients.

Coto-Segura P et al.

International Immunopharmacology, 2015

Pooled sequencing of 531 genes in inflammatory bowel disease identifies an associated rare variant in BTNL2 and implicates other immune related genes.

Prescott NJ et al.

Plos Genetics, 2015

25671699 (PubMed )
Supplement: pgen.1004955.s006.xlsx › SNVs

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.

Christodoulou K et al.

Gut, 2013

22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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