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Details Of NON Syndromic Child Disease

Disease Name phenotype Inheritance Mode Chr Location Mutation Type Gene Name mRNA Variant Protein Variant Effect Reference
Azoospermia(ADGRG2) male infertility X-linked Xp22.13 Nonsense Mutation ADGRG2 2440C>T Arg814* Truncated Protein 0/Khan MJ et.al.,,,2018