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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPN2

Variant:p.V247_L248delFs

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PTPN2

NM_002828.4:p.V247_L248delFs

hg38:chr18:12814317 TAACAC>T

Associated Papers

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED et al.

Nature, 2020

32499645 (PubMed )

Supplement: EMS85907-supplement-Supplementary_Information.pdf

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