Varaico: Literature-Extracted Genetic Variants

Gene:CFAP69
Variant:p.G472S
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CFAP69

NM_001039706.3:p.G472S

Associated Papers

Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.

Rubino E et al.

Alzheimer's Research & Therapy, 2025

39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2

A novel mutation in CFAP47 causes male infertility due to multiple morphological abnormalities of the sperm flagella.

Liu M et al.

Frontiers in Endocrinology, 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl4.xlsx › PL17
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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."