Varaico: Literature-Extracted Genetic Variants

Gene:IL7R
Variant:p.I126L
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IL7R

NM_002185.5:p.I126L

Associated Papers

Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.

Taha I et al.

Genes, 2022

35893049 (PubMed )
Supplement: genes-13-01314-s001.zip › genes-1798999-supplementary.xlsx › Table_S4

PAX5-driven subtypes of B-progenitor acute lymphoblastic leukemia.

Gu Z et al.

Nature Genetics, 2019

Complex Landscape of Germline Variants in Brazilian Patients With Hereditary and Early Onset Breast Cancer.

Torrezan GT et al.

Frontiers in Genetics, 2018

29868112 (PubMed )
Supplement: Table_1.DOCX
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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."