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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CSF2RA

Variant:p.E200_Q204del5

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CSF2RA

NM_172245.4:p.E200_Q204del5

hg38:chrY:1290459 GAGAAATTGGCATCCA>G

Associated Papers

A Hereditary Pulmonary Alveolar Proteinosis Caused by a Novel Hemizygous Variation of the CSF2RA Gene Case Report and Literature Review.

Chen Q et al.

Molecular Genetics & Genomic Medicine, 2025

41311221 (PubMed )

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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."