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Short Case Reports

A second report of recessive type COL4A1-related disorder: a novel homozygous missense variant

Sabir, Ataf H.a,,b; Singh, Ananyab; Elley, Georgec; Wassemer, Evangelined; Foster, Katharinee; Sloman, Melissaf; Lim, Dereka,,b

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doi: 10.1097/MCD.0000000000000362
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