Varaico: Literature-Extracted Genetic Variants

Gene:MRPL17
Variant:p.S166fs
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MRPL17

NM_022061.4:p.S166fs

Associated Papers

Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.

Li S et al.

Orphanet Journal of Rare Diseases, 2024

38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › dominant_inheritance
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