Varaico: Literature-Extracted Genetic Variants

Gene:INF2
Variant:p.Q127R
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INF2

NM_022489.4:p.Q127R

Associated Papers

Regulation of formin INF2 and its alteration in INF2-linked inherited disorders.

Labat-de-Hoz L et al.

Cellular and Molecular Life Sciences : Cmls, 2024

39586895 (PubMed )
Supplement: 18_2024_5499_MOESM3_ESM.xlsx › Table-S1

Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing.

Theuriet J et al.

European Journal of Human Genetics : Ejhg, 2024

37337091 (PubMed )
Supplement: 41431_2023_1407_MOESM1_ESM.pdf
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