Varaico: Literature-Extracted Genetic Variants

Gene:GDAP1L1
Variant:p.Q81*
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GDAP1L1

NM_024034.6:p.Q81*

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet
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