Associated Papers
Biallelic variants in SLC26A2 cause multiple epiphyseal dysplasia-4 by disturbing chondrocyte homeostasis.
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Orphanet Journal of Rare Diseases, 2024
38956600 (PubMed )
Supplement: 13023_2024_3228_MOESM3_ESM.xlsx › dominant_inheritance
Arginine deprivation enriches lung cancer proteomes with cysteine by inducing arginine-to-cysteine substitutants.
Yang C et al.
Molecular Cell, 2024
38759626 (PubMed )
Supplement: mmc4.xlsx › GeneMutationWithOverlap
Screening for SLC7A14 gene mutations in patients with autosomal recessive or sporadic retinitis pigmentosa.
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Ophthalmic Genetics, 0
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