Varaico: Literature-Extracted Genetic Variants

Gene:IFT70B
Variant:p.Q119R
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IFT70B

NM_152517.3:p.Q119R

Associated Papers

Osteomesopyknosis associated with a novel ALOX5 variant that impacts the RANKL pathway.

Fernandez-Luna JL et al.

Molecular Genetics & Genomic Medicine, 2024

38803233 (PubMed )
Supplement: MGG3-12-e2471-s001.xls › Sheet1

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

ERBB2 and KRAS alterations mediate response to EGFR inhibitors in early stage gallbladder cancer.

Iyer P et al.

International Journal of Cancer, 2019

30304546 (PubMed )
Supplement: IJC-144-2008-s001.pdf

TRPV4 and KRAS and FGFR1 gain-of-function mutations drive giant cell lesions of the jaw.

Gomes CC et al.

Nature Communications, 2018

30385747 (PubMed )
Supplement: 41467_2018_6690_MOESM6_ESM.xlsx › Supplementary_Data_3
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