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Bi-allelic Variants in IQSEC1 Cause Intellectual Disability, Developmental Delay, and Short Stature.
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In: American journal of human genetics, vol. 105, no. 5, pp. 907-920 (2019)
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Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.
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In: Genetics in medicine, vol. 20, no. 7, pp. 778-784 (2018)
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