Varaico: Literature-Extracted Genetic Variants

Gene:LDLRAP1
Variant:p.S202fs
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LDLRAP1

NM_015627.3:p.S202fs

Associated Papers

A stop-gain mutation in GXYLT1 promotes metastasis of colorectal cancer via the MAPK pathway.

Peng L et al.

Cell Death & Disease, 2022

35459861 (PubMed )
Supplement: 41419_2022_4844_MOESM4_ESM.xlsx › Supplementary_Table_3

A case of autosomal recessive hypercholesterolemia with a novel mutation in the LDLRAP1 gene.

Nikasa P et al.

Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2021

Dynamics of genomic and immune responses during primary immunotherapy resistance in mismatch repair-deficient tumors.

Takahashi N et al.

Cold Spring Harbor Molecular Case Studies, 2020

33028646 (PubMed )
Supplement: supp_mcs.a005678_Supplemental_Tables_.xlsx › Supplementary_Table_S2

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_4

Refinement of pathogenicity classification of variants associated with familial hypercholesterolemia: Implications for clinical diagnosis.

Di Costanzo A et al.

Journal of Clinical Lipidology, 0

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