GENETIC ENCYCLOPEDIA
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disease: Cerebrooculofacioskeletal syndrome 2

id765
nameCerebrooculofacioskeletal syndrome 2
variant-disease NM_000400.3(ERCC2):c.2092C>T (p.Gln698Ter) AND Cerebrooculofacioskeletal syndrome 2
NM_000400.3(ERCC2):c.2041G>A (p.Asp681Asn) AND Cerebrooculofacioskeletal syndrome 2
NM_000400.3(ERCC2):c.1846C>T (p.Arg616Trp) AND Cerebrooculofacioskeletal syndrome 2
NM_000400.3(ERCC2):c.2164C>T (p.Arg722Trp) AND Cerebrooculofacioskeletal syndrome 2
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) AND multiple conditions
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