Homo sapiens hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroi - Nucleotide

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High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians. [Front Endocrinol (Lausanne). 2...]
High carrier frequency of a nonsense p.Trp230* variant in HSD3B2 gene in Ossetians.
Makretskaya N, Kalinchenko N, Tebieva I, Ionova S, Zinchenko R, Marakhonov A, Tiulpakov A. Front Endocrinol (Lausanne). 2023; 14:1146768. Epub 2023 May 16.
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia. [Genes (Basel). 2022]
Co-Occurrence of a Pathogenic HSD3B2 Variant and a Duplication on 10q22.3-q23.2 Detected in Newborn Twins with Salt-Wasting Congenital Adrenal Hyperplasia.
Mellone S, Bertelli E, Roviglione B, Vurchio D, Ronzani S, Secco A, Felici E, Strozzi MM, Schena F, Giordano M. Genes (Basel). 2022 Nov 23; 13(12). Epub 2022 Nov 23.
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome. [Cell. 2021]
Dual proteome-scale networks reveal cell-specific remodeling of the human interactome.
Huttlin EL, Bruckner RJ, Navarrete-Perea J, Cannon JR, Baltier K, Gebreab F, Gygi MP, Thornock A, Zarraga G, Tam S, et al. Cell. 2021 May 27; 184(11):3022-3040.e28. Epub 2021 May 6.

Protein
Protein sequence from Nucleotide coding region
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RNA
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SNP
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RecName: Full=MICOS complex subunit MIC60-2; AltName: Full=Inner mitochondrial m...
RecName: Full=MICOS complex subunit MIC60-2; AltName: Full=Inner mitochondrial membrane protein 2; AltName: Full=Mitofilin homolog 2; Flags: Precursor
gi|75029364|sp|Q9XXN2.2|IMMT2_CAEEL

Protein
MICOS complex subunit MIC60 [Gallus gallus]
MICOS complex subunit MIC60 [Gallus gallus]
gi|57530041|ref|NP_001006462.1|

Protein
204407[uid] (1)
Taxonomy
Atopic cataract
Atopic cataract

MedGen
C0271174[conceptid] (1)
MedGen

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Nucleotide