whether a direct causal relationship exists between these variables., . et al. 0 - issue: - volume: - pages: .
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whereas the third missense variant directly influenced the cis-dimerization interface of PCDHGC4. CONCLUSION: We show that biallelic variants in PCDHGC4 are causing a novel autosomal recessive neurodevelopmental disorder and link PCDHGC4 as a member of the clustered PCDH family to a Mendelian disorder in humans., . et al. 0 - issue: - volume: - pages: .
L., . et al. 0 C.; Cardoso spastic paraplegia and skewed pattern of X inactivation;;;;;;;eng;;;;;PubMed;;PMID: 10417298 PMCID: PMC1377954 - issue: - volume: - pages: .