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A novel homozygous missense variant in MATN3 causes spondylo-epimetaphyseal dysplasia Matrilin 3 type in a consanguineous family

Yasin, S (author)
Mustafa, S (author)
Ayesha, A (author)
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Latif, M (author)
Hassan, M (author)
Faisal, M (author)
Makitie, O (author)
Karolinska Institutet
Iqbal, F (author)
Naz, S (author)
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 (creator_code:org_t)
Elsevier BV, 2020
2020
English.
In: European journal of medical genetics. - : Elsevier BV. - 1878-0849 .- 1769-7212. ; 63:8, s. 103958-
  • Journal article (peer-reviewed)
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