Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.H703Q
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NPHP3

NM_153240.5:p.H703Q

Associated Papers

Functional and Molecular Heterogeneity in Glioma Stem Cells Derived from Multiregional Sampling.

Brynjulvsen M et al.

Cancers, 2023

38136371 (PubMed )
Supplement: cancers-15-05826-s001.zip › cancers-2734281-supplementary › Supplementary_Table_S3_-_Mutations.xlsx › Mutations

Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.

Li X et al.

Medicine, 2020

32000458 (PubMed )
Supplement: medi-99-e19076-s002.xlsx › Supp_Table2._somatic_SNVs
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