Varaico: Literature-Extracted Genetic Variants

Gene:NIN
Variant:p.Q1222R
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NIN

NM_020921.4:p.Q1222R

Associated Papers

Expanding the Clinical Phenotype Associated with the NIN Gene; Report of a Patient with Short Stature, Microcephaly and Hearing Loss.

Zamanian Najafabadi S et al.

Archives of Iranian Medicine, 2025

Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.

Xiang J et al.

Scientific Reports, 2020

31942019 (PubMed )
Supplement: 41598_2019_57335_MOESM1_ESM.xlsx › Sup_table_1

Identification of a Ninein (NIN) mutation in a family with spondyloepimetaphyseal dysplasia with joint laxity (leptodactylic type)-like phenotype.

Grosch M et al.

Matrix Biology : Journal of the International Society for Matrix Biology, 0

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