Varaico: Literature-Extracted Genetic Variants

Gene:RBBP8
Variant:p.I603delFs
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RBBP8

NM_002894.3:p.I603delFs

Associated Papers

A commentary on "Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models".

Pu J

Journal of Human Genetics, 2023

Recurrence mutation in RBBP8 gene causing non-syndromic autosomal recessive primary microcephaly; geometric simulation approach for insight into predicted computational models.

Batool T et al.

Journal of Human Genetics, 2023

RBBP8 syndrome with microcephaly, intellectual disability, short stature and brachydactyly.

Mumtaz S et al.

American Journal of Medical Genetics. Part A, 2015

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