Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.H620Y
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CFTR

NM_000492.4:p.H620Y

Associated Papers

Benchmarking AlphaMissense Pathogenicity Predictions Against Cystic Fibrosis Variants.

McDonald EF et al.

Biorxiv : the Preprint Server for Biology, 2024

37873426 (PubMed )
Supplement: media-3.xlsx › Sheet1

Benchmarking AlphaMissense pathogenicity predictions against cystic fibrosis variants.

McDonald EF et al.

Plos One, 2024

38271453 (PubMed )
Supplement: pone.0297560.s009.xlsx › Supp_Table_2

Mutations in CFTR genes are associated with oligoasthenospermia in infertile men undergoing IVF.

Li Q et al.

Andrologia, 2022

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.

Zou WB et al.

Clinical and Translational Gastroenterology, 2018

Protein tyrosine phosphatase PTPN22 regulates LFA-1 dependent Th1 responses.

Sanchez-Blanco C et al.

Journal of Autoimmunity, 2018

The +1858 C/T Polymorphism in the PTPN22 Gene Is Associated with Cystic Fibrosis Patients in Northeast Mexico.

Salinas-Santander MA et al.

Archives of Medical Research, 2016

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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."