Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.M1I
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HCLS1

NM_005335.6:p.M1I

Associated Papers

Extended clinical phenotypes and treatment modalities in 32 JAGN1-deficient patients: a multicenter study by ESID and EBMT IEWP.

Fekadu-Siebald J et al.

Blood Advances, 2025

Clinicopathological and molecular characteristics of patients with hypermutant lung cancer: A retrospective cohort study.

Zhang H et al.

Oncology Letters, 2021

33692861 (PubMed )
Supplement: Supplementary_Data.pdf

Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.

Bibbò F et al.

Frontiers in Oncology, 2021

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