Varaico: Literature-Extracted Genetic Variants

Gene:SFXN5
Variant:p.E57_R58Splc
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SFXN5

NM_144579.3:p.E57_R58Splc

Associated Papers

A homozygous missense variant in the WRN gene segregating in a family with progressive pulmonary failure with recurrent spontaneous pneumothorax and interstitial lung disease.

Sezer A et al.

American Journal of Medical Genetics. Part A, 2023

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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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."