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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTRH1

Variant:p.M32_V33Splc

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PTRH1

NM_001002913.3:p.M32_V33Splc

hg38:chr9:127715195 C>A

Associated Papers

Spectrum Of HBB Gene Variants And Major Endocrine Complications In Thalassemia Patients Of Pakistan.

Ghafoor MB et al.

Jpma. the Journal of the Pakistan Medical Association, 2023

37876062 (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."