Varaico: Literature-Extracted Genetic Variants

Gene:CELSR3
Variant:p.G523R
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CELSR3

NM_001407.3:p.G523R

Associated Papers

Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies.

Stegmann JD et al.

Npj Genomic Medicine, 2024

38429302 (PubMed )
Supplement: 41525_2024_398_MOESM1_ESM.pdf

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL2
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