Varaico: Literature-Extracted Genetic Variants

Gene:CFAP47
Variant:p.R870Q
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CFAP47

NM_001304548.2:p.R870Q

Associated Papers

In situ structure of the mouse sperm central apparatus reveals mechanistic insights into asthenozoospermia.

Zhu Y et al.

Cell Research, 2025

40473901 (PubMed )
Supplement: 41422_2025_1135_MOESM35_ESM.xlsx › Table_S9

CFAP47 is Implicated in X-Linked Polycystic Kidney Disease.

Mori T et al.

Kidney International Reports, 2024

Whole exome sequencing analysis of 167 men with primary infertility.

Zhou H et al.

Bmc Medical Genomics, 2024

CFAP47 is a novel causative gene implicated in X-linked polycystic kidney disease.

Mori T et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.

Takata A et al.

Nature Communications, 2019

31175295 (PubMed )
Supplement: 41467_2019_10482_MOESM8_ESM.xlsx › Supplementary_Data_5
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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."