Varaico: Literature-Extracted Genetic Variants

Gene:CFAP46
Variant:p.R2550*
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CFAP46

NM_001200049.3:p.R2550*

Associated Papers

Exome sequencing reveals variants in known and novel candidate genes for severe sperm motility disorders.

Oud MS et al.

Human Reproduction (oxford, England), 2021

34089056 (PubMed )
Supplement: deab099_supplementary_tables5.pdf

Mutation profiling in eight cases of vagal paragangliomas.

Kudryavtseva AV et al.

Bmc Medical Genomics, 2020

32948195 (PubMed )
Supplement: 12920_2020_763_MOESM1_ESM.xls › Pat2

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1
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