Varaico: Literature-Extracted Genetic Variants

Gene:COL9A2
Variant:p.K387_G388Splc
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COL9A2

NM_001852.4:p.K387_G388Splc

Associated Papers

Post-lingual non-syndromic hearing loss phenotype: a polygenic case with 2 biallelic mutations in MYO15A and MITF.

Khalil A et al.

Bmc Medical Genetics, 2020

31898538 (PubMed )
Supplement: 12881_2019_942_MOESM2_ESM.xls › suppTbale1

Comprehensive screening of multiple epiphyseal dysplasia mutations in Japanese population.

Itoh T et al.

American Journal of Medical Genetics. Part A, 2006

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