Varaico: Literature-Extracted Genetic Variants

Gene:BAHCC1
Variant:p.R1182Q
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BAHCC1

NM_001377448.1:p.R1182Q

Associated Papers

Different Contribution of Missense and Loss-of-Function Variants to the Genetic Structure of Familial and Sporadic Meniere Disease.

Parra-Perez AM et al.

Medcomm, 2025

40989574 (PubMed )
Supplement: MCO2-6-e70394-s001.xlsx › TableS13

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Arnadottir GA et al.

Nature Communications, 2022

35121750 (PubMed )
Supplement: 41467_2022_28330_MOESM4_ESM.xlsx › Sheet1
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