Varaico: Literature-Extracted Genetic Variants

Gene:MYO9B
Variant:p.R1148H
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MYO9B

NM_004145.4:p.R1148H

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

Human inherited CCR2 deficiency underlies progressive polycystic lung disease.

Neehus AL et al.

Cell, 2024

38157855 (PubMed )
Supplement: NIHMS1949155-supplement-MMC1.pdf

An integrated analysis of rare CNV and exome variation in Autism Spectrum Disorder using the Infinium PsychArray.

Bacchelli E et al.

Scientific Reports, 2020

32081867 (PubMed )
Supplement: 41598_2020_59922_MOESM2_ESM.xlsx › Table_S6
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."