Varaico: Literature-Extracted Genetic Variants

Gene:CEACAM16
Variant:p.F221Splc
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CEACAM16

NM_001039213.4:p.F221Splc

Associated Papers

Auditory Phenotype of a Novel Missense Variant in the CEACAM16 Gene in a Large Russian Family With Autosomal Dominant Nonsyndromic Hearing Loss.

Markova TG et al.

The Journal of International Advanced Otology, 2024

Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humans.

Dias AMM et al.

Journal of Human Genetics, 2019

Old gene, new phenotype: splice-altering variants in CEACAM16 cause recessive non-syndromic hearing impairment.

Booth KT et al.

Journal of Medical Genetics, 2018

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