Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.N1224K
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CFTR

NM_000492.4:p.N1224K

Associated Papers

Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis.

Pol A et al.

Nature Genetics, 2018

29255262 (PubMed )
Supplement: NIHMS74866-supplement-Supplementary_table_1.xlsx › EXAC_CFTR

Development of a Targeted Multi-Disorder High-Throughput Sequencing Assay for the Effective Identification of Disease-Causing Variants.

Delio M et al.

Plos One, 2015

Amniotic fluid digestive enzyme analysis is useful for identifying CFTR gene mutations of unclear significance.

Oca F et al.

Clinical Chemistry, 2009

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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."