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A Novel Homozygous Frameshift Variant in XYLT2 Causes Spondyloocular Syndrome in a Consanguineous Pakistani Family
- Kausar, M (author)
- Chew, EGY (author)
- Ullah, H (author)
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- Anees, M (author)
- Khor, CC (author)
- Foo, IN (author)
- Siddiqi, S (author)
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- 2019-03-05
- 2019
- English.
- In: Frontiers in genetics. - : Frontiers Media SA. - 1664-8021. ; 10, s. 144-
- Journal article (peer-reviewed)
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- Kausar, M
- Chew, EGY
- Ullah, H
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- Khor, CC
- Foo, IN
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- Makitie, O
- Siddiqi, S
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